Congenital muscular dystrophy
Brain MR in Fukuyama congenital muscular dystrophy
... PURPOSE: To determine the MR characteristics of brain abnormalities in Fukuyama congenital muscular dystrophy (FCMD). METHODS: We reviewed 30 MR examinations of 21 patients with FCMD to assess ...
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Cerebellar MR in Fukuyama congenital muscular dystrophy: polymicrogyria with cystic lesions
... Some authors have pointed out various similarities between FCMD and Walker-Warburg syndrome 8-11 ; including the presence of diffuse cortical dysplasia, congenital muscular dystrophy, wh[r] ...
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Inhibition of apoptosis improves outcome in a model of congenital muscular dystrophy
... The most common form of human congenital muscular dystrophy (CMD) is caused by mutations in the laminin-α2 gene. Loss of laminin-α2 function in this autosomal recessive type 1A form of CMD results in ...
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Cardiac Involvement in Fukuyama-type Congenital Muscular Dystrophy
... with congenital muscular dystrophy has not been ...Becker muscular dystrophy, a similar tendency for cardiac dysfunction to become evident in the second decade has been report- ...
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<p>Current understanding and treatment of cardiac and skeletal muscle pathology in laminin-α2 chain-deficient congenital muscular dystrophy</p>
... Abstract: Congenital muscular dystrophy (CMD) is a class of severe early-onset muscular dystrophies affecting skeletal/cardiac muscles as well as the central nervous system ...cient ...
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Novel LAMA2 Gene Mutations Associated with Merosin-Deficient Congenital Muscular Dystrophy
... Merosin-deficient congenital muscular dystrophy (MDC1A) is a rare autosomal recessive genetic disease occurred due to mutations in the LAMA2 ...
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Merosin deficient congenital muscular dystrophy Partial genetic correction in two mouse models
... severe congenital muscular dystrophy in humans (35–38), we thought it impor- tant to analyze the molecular and tissue consequences of the genetic defect in laminin a 2 in this disease and to explore ...
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Congenital muscular dystrophy: from muscle to brain
... from congenital hydrocephalus and ocular abnormalities ...Severe muscular hypotonia was present with the first three fingers flexed and absence of deep tendon reflexes and muscle enzymes were ...Fukuyama ...
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Fukuyama-type congenital muscular dystrophy and defective glycosylation of α-dystroglycan
... Fukuyama-type congenital muscular dystrophy (FCMD) is a severe form of muscular dystrophy accompanied by abnormalities in the eye and ...
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Human adipose-derived stem cell transplantation as a potential therapy for collagen VI-related congenital muscular dystrophy
... Ullrich congenital muscular dystrophy (UCMD) and Bethlem myopathy, respectively, represent the severe and mild end of a clinical continuum associated with a defi- ciency or dysfunction of collagen ...
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Integrins (alpha7beta1) in muscle function and survival Disrupted expression in merosin deficient congenital muscular dystrophy
... of muscular dystrophies in which these proteins are affected include the X-linked Du- chenne/Becker muscular dystrophy (DMD/BMD) and the mu- tant mdx mouse, which involve a deficiency in dystrophin, ...
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Clinical Reasoning: A 30-year-old man with progressive weakness and atrophy
... clinical presentation is notably varied including an LGMD 2B presentation, early involvement of the medial calf muscle (Miyoshi myopathy), or a combi- nation of proximal and distal weakness. The pheno- type may also ...
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Clinical long-time course, novel mutations and genotype-phenotype correlation in a cohort of 27 families with POMT1-related disorders
... girdle muscular dys- trophy (LGMD2K, 1; MDDGC1; OMIM 609308) and congenital muscular dystrophy (CMD type B1; MDDGB1; OMIM 613155) were described [7 – ...
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ColVI myopathies: where do we stand, where do we go?
... Ullrich congenital muscular dystrophy (UCMD) and Bethlem myopathy (BM) at each end of the spectrum, and less well-defined intermediate phenotypes in ...
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Clinical Reasoning: Cardioembolic stroke in a 23-year-old man with elbow contracture
... Though previously not reported, the LMNA mutation is most likely pathogenic in this patient. The LMNA gene located in chromosome 1q22 is composed of 12 exons and encodes 4 lamins by alternative splicing. The lamin A and ...
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MR of Zellweger syndrome
... the congenital muscular dystrophies can be differentiated from Zellweger syndrome clinically, in that most affected patients are not as sick in the neonatal period; do not have the typical Zellweger facies; ...
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Diagnostic support for selected neuromuscular diseases using answer-pattern recognition and data mining techniques: a proof of concept multicenter prospective trial
... Becker muscular dystrophy, oculopharyngeal muscu- lar dystrophy (OPMD), proximal myotonic myopathy (PROMM), facioscapulohumeral MD, limb-girdle-MD, myotonia congenita Thomsen], MP, spinal ...
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ISPD mutations account for a small proportion of Italian Limb Girdle Muscular Dystrophy cases
... with muscular dystrophies (referred to as secondary dystroglycanopathies) [19], while only a couple of cases have been associated with mutations in DAG1, the gene that encodes both α-dystroglycan and ...
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Rhabdomyolysis: a genetic perspective
... Becker muscular dystrophy (BMD) due to mutations in DMD and limb-girdle muscular dystrophy 2I (LGMD2I) due to mutations in FKRP (OMIM#606596) are the most common dystrophies to present with RM ...
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Modifying function and fibrosis of cardiac and skeletal muscle from mdx mice
... increased levels of reactive oxygen intermediates (Kobzik et al. 1994). An increased production of ROS through the dystrophin deficiency and subsequent decreased DAGPC signalling results in decreased NO production and ...
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