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Merosin deficient muscular dystrophy Radiology

CONCLUSION: MR imaging of the brain in children with merosin-deficient congenital muscular dystrophy reveals a consistent pattern of white matter abnormality. We postulate that disruption of the blood-brain barrier associated with merosin deficiency leads to increased water content, resulting in abnormal white matter signal intensity

PURPOSE: To prospectively use hydrogen 1 (1 H) magnetic resonance (MR) spectroscopy and apparent diffusion coefficient (ADC) maps to try to explain the discrepancy between the extensive white matter (WM) abnormalities observed at MR imaging and the relatively mild neurocognitive decline in patients with merosin-deficient congenital muscular dystrophy (CMD) Background: Merosin-deficient congenital muscular dystrophy (CMD) is characterized clinically by hypotonia and muscular weakness and, on imaging studies, by white matter (WM) abnormality. Objective: To evaluate MRI findings in Brazilian patients with merosin-deficient CMD. Materials and methods: Twenty-five patients were evaluated using MRI

(PDF) Merosin-deficient congenital muscular dystrophy

MR Imaging Findings in Children with Merosin-Deficient

  1. 1. Radiology. 2005 Apr;235(1):190-6. Epub 2005 Feb 9. Congenital muscular dystrophy with merosin deficiency: 1H MR spectroscopy and diffusion-weighted MR imaging. Leite CC(1), Reed UC, Otaduy MC, Lacerda MT, Costa MO, Ferreira LG, Carvalho MS, Resende MB, Marie SK, Cerri GG
  2. Abstract PURPOSE: To evaluate the brain magnetic resonance (MR) imaging findings in patients with the classic form of congenital muscular dystrophy (patients with normal intelligence) in relation to the absence of merosin, a recently identified molecular component in the basement membrane of muscle fiber
  3. Merosin-deficient congenital muscular dystrophy (MDCMD) is a rare genetic disease involving the central and peripheral nervous system in the childhood. High signal intensities are often observed throughout the centrum semiovale, periventricular, and sub-cortical white matters on T2-weighted images in MRI brain in children with MDCMD
  4. The objective of the present study was to characterize the muscle magnetic resonance imaging (MRI) features of a 1-year-old girl with merosin-deficient congenital muscular dystrophy type 1A (MDC1A). Beginning as an infant, this patient exhibited severe hypotonia and proximal weakness, as well as del
  5. in ?2 chain, LAMA2, located on chromosome 6q2 [9]. Merosin is the predo

Congenital Muscular Dystrophy with Merosin Deficiency: 1H

Merosin-deficient or LAMA2-related congenital muscular dystrophy (CMD) belongs to a group of muscle diseases with an overlapping diagnostic spectrum. MRI plays an important role in the diagnosis and disease-tracking of muscle diseases. Whole-body MRI is ideal for describing patterns of muscle involvement. Our purpose is to analyze the pattern of muscle involvement in merosin-deficient CMD. Definition Merosin-deficient congenital muscular dystrophy is an autosomal recessive form of muscular dystrophy characterized by muscle weakness apparent at birth or in the first 6 months of life. Patients show hypotonia, poor suck and cry, and delayed motor development; most never achieve independent ambulation Background and Objective(s): Merosin‐deficient congenital muscular dystrophy (CMD) represents a diverse group of rare hereditary muscle diseases. Yet, overlapping clinical features exist between the subcategories of CMD and between CMD and other muscular dystrophies. MRI plays an expanding role in diagnosis of various genetic muscle diseases

Merosin-deficient Congenital Muscular Dystrophy (CMD): A

  1. in-211 glycoprotein
  2. Read Merosin-deficient congenital muscular dystrophy (CMD): a study of 25 Brazilian patients using MRI, Pediatric Radiology on DeepDyve, the largest online rental service for scholarly research with thousands of academic publications available at your fingertips
  3. in a2), an extracellular matrix protein (Tome et al, 1994)
  4. in alpha-2 (LAMA2)-related muscular dystrophy (LAMA2-MD, Merosin Deficient CMD) is a form of congenital muscular dystrophy (CMD)
  5. in. The condition initially presents around 6.

Congenital muscular dystrophy with merosin deficiency: 1H

Helbling-Leclerc A, Zhang X, Topaloglu H, et al. Mutations in the laminin alpha 2-chain gene (LAMA2) cause merosin-deficient congenital muscular dystrophy. Nat Genet . 1995 Oct. 11(2):216-8. Merosin Deficient Congenital muscular dystrophy type 1A (MDC1A) is a rare kind of congenital muscular dystrophy.Here we report a Chinese case with a genetic diagnosis exposing a novel point mutation and a novel exonic deletion in the causative gene LAMA2. We collected the medical history and did physical examination for the case. A set of auxiliary examination was performed for the diagnosis Congenital Muscular Dystrophy Pilar A. Caro, Mena Scavina, Eric Hoffman, Elena Pegoraro, and Harold G. Marks BACKGROUND AND PURPOSE: Our purpose was to determine the brain MR imaging characteristics of merosin-deficient congenital muscular dystrophy in children. METHODS: We reviewed the MR imaging findings of the brain in three children with. Background: Merosin-deficient congenital muscular dystrophy (CMD) is characterized clinically by hypotonia and muscular weakness and, on imaging studies, by white matter (WM) abnormality.Objective: To evaluate MRI findings in Brazilian patients with merosin-deficient CMD.Materials and methods: Twenty-five patients were evaluated using MRI.Three patients presented with partial merosin.

Children with merosin-deficient congenital muscular dystrophy (CMD) have striking white matter changes on T-2 weighted brain magnetic resonance imaging (MRI). There have been occasional cases with structural abnormalities, mainly involving the occipital cortex. We report our brain imaging findings in 14 children with merosin-deficient CMD MRI of the brain in congenital muscular dystrophy provides some valuable clue for diagnosis of merosin-deficient subtype even in a child with normal mentation. Brain imaging cannot be used for screening congenital muscular dystrophy in early infancy as white matter changes are known to progress with age typically after infancy Merosin-deficient congenital muscular dystrophy (CMD) belongs to a diverse group of rare hereditary muscle diseases distinguished by specific phenotypes. considered in the differential their diagnosis. MRI plays an expanding role in diagnosis and disease tracking of various genetic muscle diseases. The goal i

Congenital muscular dystrophy: use of brain MR imaging

  1. Major types (according to van der Knapp): Fukuyama congenital muscular dystrophy Associated cortical dysplasia Walker-Warburg syndrome Associated cortical dysplasia Muscle eye brain syndrome Merosin deficient congenital muscular dystrophy (classic form) MDC1C - brain mostly normal MDC1D - brain not normal 85
  2. in‐2) is an isoform of la
  3. in-α2 chain. It is the most frequent subtype of congenital muscular dystrophies (CMDs) characterized by total la
  4. Two sis- Magnetic resonance imaging findings in a newborn with merosin-deficient ters had a CMD with an Emery-Dreifuss phenotype with elbows and congenital muscular dystrophy ankles contractures. All the known CMD loci and LMNA gene were G. Haliloglu 1, K. Karli Oguz 2, D. Orhan 3, M. Yurdakok 4, excluded

Al-Ajmi et al. (2001) described the first Syrian patient to be diagnosed with merosin deficient congenital muscular dystrophy. The patient was a 2-year old boy who presented at Al-Sabah Hospital in Kuwait suffering from congenital muscular dystrophy. MRI brain in his case showed extensive abnormalities of white matter The aim of this study was to characterize the clinical and genetic features of a 4-year‑old female with merosin‑deficient congenital muscular dystrophy type 1A (MDC1A). MDC1A is the most common form of congenital muscular dystrophy. MDC1A is caused by mutation of the laminin α-2 gene (LAMA2), localized to chromosome 6q22-23. Clinical presentation, as well as the results of neuroimaging. PURPOSE To evaluate the brain magnetic resonance (MR) imaging findings in patients with the classic form of congenital muscular dystrophy (patients with normal intelligence) in relation to the absence of merosin, a recently identified molecular component in the basement membrane of muscle fiber. MATERIALS AND METHODS Brain MR images in 15 patients (13 children, two adults) were reviewed and. This study evaluates whether abnormalities of visual function are present in children with congenital muscular dystrophy and whether these, if present, are associated with merosin status or magnetic resonance imaging (MRI) findings. Twenty children (age range 5-17 years) with a diagnosis of classical congenital muscular dystrophy were assessed on visual acuity, stereopsis, and visual fields. 7.4.1.4 Merosin-Deficient Congenital Muscular Dystrophy. Pathology Merosin-deficient congenital muscular dystrophy is caused by a deficiency of merosin in the muscle fibers. Clinical manifestations Decreased intrauterine movements are frequently noted before birth. Newborns often show marked hypotonia (floppiness), and multiple joint.

The muscular dystrophies are a group of inherited disorders characterised by progressive muscle wasting and weakness. A unifying feature of the dystrophies is the histological analysis of muscle samples which typically includes variations in fibre size, areas of muscle necrosis, and, ultimately, increased amounts of fat and connective tissue congenital muscular dystrophy, the initial symptoms are present at birth or in the first few months. The CMDs are a very varied group of conditions, and much effort has gone into defining different subtypes of congenital muscular dystrophy and to identifying genes responsible for these specific forms of CMD. Merosin-deficient congenital. Feeding difficulties were assessed in 14 children (age range 2-14 years) with merosin deficient congenital muscular dystrophy, a disease characterised by severe muscle weakness and inability to achieve independent ambulation. Twelve of the 14 children were below the 3rd centile for weight. On questioning, all parents thought their child had difficulty chewing, 12 families modified the diet. Abstract Muscular dystrophies are a genetically and clinically diverse group of hereditary disorders of the structure of skeletal and cardiac muscle. Abnormal striated muscle and myocardial damage with associated cardiomyopathy have profound implications for perioperative management of patients with muscular dystrophies. The author presents a case of a life-threatening complication of general. * Congenital Muscular Dystrophy Type 1A (MDC1A; Merosin-Deficient CMD; CMD with Laminin Alpha 2 Deficiency) This form of CMD may be associated with a complete deficiency of the protein merosin in muscle, a protein found in the tissue that surrounds muscle fibers. Infants usually exhibit diminished muscle tone (hypotonia) and muscle weakness at.

Brain Imaging | Radiology Key

Merosin-deficient congenital muscular dystrophy in Korea Jong Hee Chae , Jin Sook Lee, Hee Hwang , Ki Joong Kim , Yong Seung Hwang, June Dong Park , Jung Eun Cheon , In One Kim , Ghee Young Choe , Sung Hye Par MALIGNANT hyperthermia (MH) is an inherited disorder of skeletal muscle that manifests clinically as a hypermetabolic crisis when a susceptible individual receives a halogenated inhalational anesthetic agent or succinylcholine. 1-3 The clinical signs that ensue from this exposure in susceptible individuals include hypercapnia, masseter muscle and/or generalized muscle rigidity, acidosis.

muscular dystrophy, of which 11 were merosin-negative. They found that the merosin-deficient group was more severely affected clinically than the merosin-positive group. MRI was performed in 15 children, seven of these patients had merosin-negative muscular dystrophy. In these seven, et al11 postulated that the white matter changes were spe Abstract. Congenital muscular dystrophies (CMDs) are a clinically and genetically heterogenous group of muscle disorders, with onset in early infancy, and autosomal recessive inheritance (1, 2, 3).Several forms have been identified: classical or occidental CMD with normal or subnormal intelligence; Fukuyama′s CMD (FEND), prevalent in Japan, characterized by severe mental retardation and. An MRI of the brain revealed periventricular and subcortical white matter hyperintensities suggestive of leucoencephalopathy. Muscle biopsy findings were consistent with degenerative muscle changes and immunohistochemical staining for merosin was negative, thus confirming the diagnosis of merosin-deficient congenital muscular dystrophy

Merosin-Deficient Congenital Muscular Dystrophy (MDCMD): A

Video: Muscle MRI findings in a one-year-old girl with merosin

Radiology: A Case Report with MRI, MRS and DTI Findings

The results revealed biallelic pathogenic variants in the gene related to merosin-deficient congenital muscular dystrophy, NM_000426.3(LAMA2):c.1338_1339del [p.Gly447Phefs*7] and c.2749 + 2dup. This is a common cause of congenital muscular dystrophy (143). Merosin-deficient congenital muscular dystrophy type 1A with complete absence of merosin on skeletal muscle biopsy causes a severe predictable phenotype. It presents in the neonatal period or first few months of life with profound proximal and axial weakness, hypotonia, and delayed. LAMA2-related muscular dystrophy is an autosomal recessive disorder caused by pathogenic variants in LAMA2 gene (OMIM 156,225).LAMA2 is located on 6q22.33 and encodes for laminin-α2 subunit of the heterotrimeric extracellular protein laminin-α2β1γ1 [].The clinical spectrum ranges from a severe, early-onset LAMA2-related congenital muscular dystrophy (LAMA2-CMD, OMIM 607,855) to a mild.

White Matter Hyperintensity on Cranial Magnetic Resonance

Mutations in the fukutin-related protein (FKRP) gene result in a wide spectrum of clinical conditions ranging from a form of congenital muscular dystrophy (MDC1C) to a milder and common form of limb girdle muscular dystrophy (LGMD2I), often associated with onset into adult life. 1,2 FKRP is a putative glycosyltransferase and although its. Merosin Deficient Congenital Muscular Dystrophy Cause and Diagnosis Autosomal Recessive CMD Flaws in the Brain Lack of All or Some Muscle Protein, Merosin White Matter Abnormalities in the Brain - visible in MRIs - no affect on brain functioning Seizures Effects on the Muscular System Muscle Weakness Merosin levels are somewhat low; children walk by 2 or 3 Merosin is completely deficient. Congenital muscular dystrophy-dystroglycanopathy with mental retardation B2 (MDDGB2) Limb-girdle muscular dystrophy-dystroglycanopathy C2 (MDDGC2; LGMD 2N) POMT2 protein O-mannosyltransferase 2 Forms complex with protein O-mannosyl-transferase 1 (POMT1) Catalyses 1st step in synthesis of O-mannosyl glycan (n α-dystroglycan

Talim BFerreiro ACormand B et al. Merosin-deficient congenital muscular dystrophy with mental retardation and cerebellar cysts unlinked to the LAMA2, FCMD and MEB loci. Neuromuscul Disord 2000;10548- 552PubMed Google Scholar Crossre Vainzof M, Richard P, Herrmann R, et al. Prenatal diagnosis in laminin alpha2 chain (merosin)-deficient congenital muscular dystrophy: a collective experience of five international centers. Neuromuscul Disord. 2005 Oct. 15(9-10):588-94. A subset of patients with congenital muscular dystrophy have recently been found to be deficient in the extracellular matrix protein merosin. Consequently, we reviewed the clinical, pathologic, and immunohistochemical features of 12 patients (six males and six females) with classic congenital muscular dystrophy who have been seen at the. Duchenne's Muscular Dystrophy. Duchenne's muscular dystrophy is a rapidly progressive primary degeneration of skeletal muscle, with age at onset from 4 to 6 years and death at 10 to 20 years old. It is the most severe form of muscular dystrophy and is inherited as an X-linked recessive disorder, predominantly in boys Muscular Dystrophy Mutations in LAMA2 contribute to the pathogenesis of merosin-deficient congenital muscular dystrophy (MDC1A) or LAMA2-related muscular dystrophy (LAMA2 MD), a rare autosomal recessive disorder characterized by neonatal hypotonia, muscle weakness secondary to demyelination of peripheral nerves, and elevated levels of creatine.

Muscular Dystrophy, Congenital Merosin-deficient, 1a; Mdc1

  1. in alpha 2-chain gene (LAMA2) cause merosin-deficient congenital muscular dystrophy. Nat Genet 1995;11:216-218. e34. Chae JH, Lee JS, Hwang H, et al. Merosin-deficient congenital muscular dystrophy in Korea. Brain Dev 2009;31:341-346. e35
  2. Merosin Deficient Muscular Dystrophy Myotonic Dystrophy Neiman Pick Partial Complex IV Mitochondrial Disease Pompe Disease Soto Syndrome Radiology: Chest imaging Sinus imaging achri.archildrens.org arpediatrics.org uams.edu Use of the Pulmonary Composite Taking the history.
  3. in-211/221 (merosin) from the basal la
  4. Physicians might order brain MRI scan to assist with a diagnosis of patients with clinically suspected CMD subtypes, such as merosin deficient CMD or dystroglycanopathies. Eye and brain can be also affected in CMD children and might require appropriate care
  5. Merosin-Deficient Congenital Muscular Dystrophy: A Pictorial Review of the Intracranial Magnetic Resonance Imaging Findings and Illustration of Associated Brainstem Abnormalities. American Society.
  6. Hemodynamic instability during prone spine surgery in a patient with merosin deficient congenital muscular dystrophy 23279697 Paediatr Anaesth , 2013 : 23(3)294-6 Jimenez N, Anderson GD, Shen DD, Nielsen SS, Farin FM, Seidel K, Lynn A

Merosin-deficient congenital muscular dystrophy, autosomal

Merosin-deficient congenital muscular dystrophy type 1A (MDC1A) it is an autosomal recessive neuromuscular disorder caused by mutations in the laminin α-2 gene (LAMA2) on chromosome 6q22-23 that results in a deficiency of the laminin α-2 chain, a component of skeletal muscle extracellular matrix laminin-2, merosin [2] The clinical features in the 10 merosin-deficient patients were homogeneous, with severe floppiness at birth, delay in achievement of motor milestones, and magnetic resonance imaging findings of white matter changes with normal intelligence. a pathogenesis model for this major subset of congenital muscular dystrophy is proposed. Our data. Merosin-deficient CMD type 1A (MDC1A), caused by mutations of laminin subunit alpha 2 (LAMA2), is a predominant subtype of congenital muscular dystrophy (CMD). Herein, we described a Chinese patient with MDC1A who was admitted to hospital 17 days after birth because of marasmus and feeding difficulties. Mutations were identified by targeted capture and next generation sequencing (NGS) and.

Congenital muscular dystrophy: merosin deficient

Congenital muscular dystrophy, cardiomyopathy, and peripheral neuropathy due to merosin deficiency: Peripheral nerve histology of cauda equina Erika Hissong M.D.a,1, Steven Salvatore M.D.a,1, Kurenai Tanji M.D., Ph.D.b,2, Ehud Lavi M.D.a,⁎ aNew York Presbyterian Hospital, Weill Cornell Medical Center, 525 E 68th Street, New York, NY 10065 bNew York Presbyterian Hospital, Columbia University. MR imaging findings in children with merosin-deficient congenital muscular dystrophy. AJNR Am J Neuroradiol. 1999 Feb;20(2):324-6. Fujii Y, Sugiura C, Fukuda C, Maegaki Y, Ohno K. Sequential neuroradiological and neurophysiological studies in a Japanese girl with merosin-deficient congenital muscular dystrophy Merosin deficient CMD is a more severe, newly discovered autosomal recessive form of muscular dystrophy, whose patients have all CMD hallmark symptoms, but additionally are unable to walk independently. Furthermore, such patients also have findings consistent with abnormal brain white matter as observed by Magnetic Resonance Imaging (MRI)

Merosin-deficient congenital muscular dystrophy with severe mental retardation and normal cranial MRI: a report of two siblings. Neuromuscul. Disord. 8, 169-174. doi: 10.1016/s0960-8966(98)00013- Congenital muscular dystrophies (CMD) are a group of heterogeneous inherited autosomal recessive disorders characterized by muscular weakness, hypotonia and contractures. The Merosin Negative CMD (MNCMD) is considered to be the most severe form and is usually associated with white matter abnormalities as seen with brain imaging Myotonic dystrophy type 1 (DM1) is the most common adult-onset muscular dystrophy and is estimated to affect about 1 in 8,000-20,000 in the general population. The prevalence of both DM1 and myotonic dystrophy type 2 (DM2) vary greatly across countries and ethnic groups.

Whole-Body Muscle MRI Characteristics of LAMA2 Gene

  1. in α-2 gene (LAMA2) on chromosome 6q22-23 that results in a deficiency of the la
  2. Merosin-deficient congenital muscular dystrophy is an autosomal recessive disease that can manifest differently in different ethnic groups. This often presents as a floppy infant, and normal mental development. The creatine kinase is usually elevated with white matter abnormalities on brain imaging
  3. What is the most common congenital muscular dystrophy and what is a distinct feature? Merosin deficient CMD-Brain MRI- white matter changes. What are some features of Bethlem CMD? **Second most common congenital MD-AD, de novo-Genes: COL6A1, COL6A2, COL6A
  4. in alpha 2 deficiency-associated muscular dystrophy in a Maine Coon cat. J Small Anim Pract 44 :550 ↑ O'Brien, DP et al (2001) La

merosin deficient congenital muscular dystrophy (Concept

Congenital muscular dystrophy (CMD) refers to a group of muscular dystrophies that are apparent at birth. There are several types, including a classic form, Fukuyama type (seen primarily in Japan), Ullrich CMD, merosin-deficient or merosin-positive CMD, Walker-Warburg syndrome, and muscle-eye-brain disease Brain magnetic resonance spectroscopy (MRS) and diffusion tensor imaging (DTI) in one patient with merosin-deficient congenital muscular dystrophy (MDCMD) revealed significant metabolite (choline, creatine, N-acetyl aspartate) level reductions, fractional anisotropy (FA) reduction and increased apparent diffusion coefficient (ADC) in the white matter (p <0.01, all) It is an autosomal recessively inherited form of muscular dystrophy that is associated with severe neonatal hypotonia, a high serum creatine kinase level, and abnormal brain imaging without intellectual dysfunction. We report a case of merosin-deficient CMD confirmed by the immunocytochemical analysis of the frozen muscle biopsy Laminin alpha-2 (LAMA2)-related muscular dystrophy (LAMA2-MD, Merosin Deficient CMD) is a form of congenital muscular dystrophy (CMD). A person with LAMA2-MD will have changes on brain imaging (MRI), a decrease or absence of the protein merosin (laminin 211) on muscle or skin biopsy and changes in the LAMA2 gene that are inherited from both parents

Whole‐body muscle magnetic resonance imaging

INTRODUCTION. Congenital muscular dystrophy type 1A (MDC1A), also known as merosin-deficient congenital muscular dystrophy (CMD), is a rare autosomal recessive condition caused by deficient merosin expression ().It is the most common cause of what was originally called classical, or occidental, CMD without structural involvement of the central nervous system (CNS) in distinction to CMDs with. Background: Merosin-deficient congenital muscular dystrophy (MDC1A) is a rare autosomal recessive genetic disease occurred due to mutations in the LAMA2 gene. This study investigated the molecular genetics of three Iranian MDC1A patients who manifested hypotonia, muscle weakness at birth, elevated levels of creatine kinase

Anesthetic Care of a Child With Merosin-Deficient Muscular

Out of all the congenital muscular dystrophies, Duchenne muscular dystrophy is the most common, and its incidence is around 1 in 3600 boys. The incidence of congenital muscular dystrophies in children in population-based studies was estimated to be around .82/100,000 children Congenital muscular dystrophy with secondary merosin deficiency and normal brain MRI. We have recently described a form of CMD in which the clinical phenotype strongly resembles that observed in the 6q-merosin deficient form with the exception of the brain MRI which is completely normal 26 A 20-year-old man with mild myopathy, external ophthalmoparesis, epilepsy, and diffuse white matter hyperintensity in the brain on magnetic resonance imaging had partial merosin deficiency in muscle and absent merosin in the endoneurium

Merosin-deficient congenital muscular dystrophy (CMD): a

Merosin-deficient congenital muscular dystrophy CMD is caused by mutations in the laminin alpha 2 chain gene. Muscle function was evaluated by quadriceps strength and functional capacity by the 6MWT. Based on the position of the QTL in base pairs, all the genes that reside in the region were determined using the Ensembl data base www Massive muscle cell degeneration in the early stage of merosin-deficient congenital muscular dystrophy. Neuromuscul. Disord. 11, 350-359 (2001). Kawahara, G. et al. Diminished binding of mutated collagen VI to the extracellular matrix surrounding myocytes. Muscle Nerve 38, 1192-1195 (2008). Lampe, A. K. et al. Exon skipping mutations in. A left vastus lateralis muscle biopsy was performed that was suggestive of chronic muscular dystrophy . A congenital muscular dystrophy gene sequencing panel identified 2 homozygous nucleotide variants of unknown significance in the collagen VI α1 (COL6A1) and laminin α2 (LAMA2) genes: c.1823-8G>A (ivs29-8G>A) and c.713C>A (p.aA238D.

Merosin - an overview ScienceDirect Topic

7. Philpot J, Bagnali A, King C, Dubowitz V, Muntoni F. Feeding problems in merosin deficient congenital muscular dystrophy. Arch Dis Child. 1999;80(6):542-547. Google Scholar; 8. Philpot J, Cowan F, Pennock J, et al. Merosindeficient congenital muscular dystrophy: the spectrum of brain involvement on magnetic resonance imaging Merosin-deficient congenital muscular dystrophy (CMD): a study of 25 Brazilian patients using MRI more by Mary Carvalho Background: Merosin-deficient congenital muscular dystrophy (CMD) is characterized clinically by hypotonia and muscular weakness and, on imaging studies, by white matter (WM) abnormality [5.] Hui CM, Kwong l, Lam SY, Loo KT. Merosin-deficient congenital muscular dystrophy in two siblings. Hong Kong Med J. 2004; 10:423-6. [6.] Philpot J, Sewry C, Pennock J, Dubowitz V. Clinical phenotype in congenital muscular dystrophy: correlation with expression of merosin in skeletal muscle. Neuromuscul Disord. 1995; 5:301-5. [7.

LAMA2-related Muscular Dystrophy Brain Study - Full Text

Hayashi YK, Tezak Z, Momoi T, Nonaka I, Garcia CA, Hoffman EP, et al. Massive muscle cell degeneration in the early stage of merosin-deficient congenital muscular dystrophy. Neuromuscular disorders: NMD. 2001;11(4):350-9. pmid:11369186. View Article PubMed/NCBI Google Scholar 22 The importance of laminin-211 in skeletal muscle is evident from merosin-deficient congenital muscular dystrophy type 1A (MDC1A), in which absence of the α2 chain of laminin-211 leads to skeletal muscle dysfunction. MDC1A is the commonest form of congenital muscular dystrophy in the European population

DI 23022.450 Merosin Deficient Congenital Muscular Dystroph

Rare Coexisting Diseases Stephen F. Dierdorf J. Scott Walton Andrew F. Stasic Key Points The cytoskeleton of the muscle membrane in patients with muscular dystrophy is abnormal and susceptible to damage. Massive release of intracellular contents, including potassium, may occur after exposure to succinylcholine or halogenated, inhaled anesthetics CMD with brain-eye, [4] also called muscle-eye-brain disease, [9] is a rare form of congenital muscular dystrophy (autosomal recessive disorder) causing a lack of normal muscle tone which can delay walking due to being weak, also paralysis of eye muscles and intellectual disability which affects an individuals way of processing information [9] It is caused by a mutation in the POMGNT1 gene It is one of the most common forms of congenital muscular dystrophy (CMD) and represents 10-40% of all cases in different CMD series [1 - 3]. Merosin is encoded by laminin alpha 2 chain gene (LAMA2) and is the predominant homologue of laminin α chain in the basal lamina of skeletal muscle fibers and Schwann cells in the nervous systems [ 4 ]