Congenital disorder of glycosylation due to DPM1 mutations presenting with dystroglycanopathy-type congenital muscular dystrophy
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چکیده
منابع مشابه
[New congenital muscular dystrophy due to CHKB mutations].
Congenital muscular dystrophy with mitochondrial structural abnormalities (MIM #602541), or also called megaconial congenital muscular dystrophy, is characterized clinically by early-onset muscle wasting and severe mental retardation, and pathologically by peculiar enlarged mitochondria that are prevalent toward the periphery of the fibers but are sparse in the center on muscle biopsy. Based up...
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Fukuyama congenital muscular dystrophy (FCMD) is the most common congenital muscular dystrophy in Japan and there are isolated reports of non-Japanese patients with FCMD. We report an Indian patient with congenital muscular dystrophy and characteristic radiological findings similar to those with FCMD.
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congenital muscular dystrophy (cmd) is an umbrella term collecting a heterogeneous groups of genetic disorders , mostly with autosomal recessive mode of inheritance , and are characterized by muscle weakness since birth or in early infancy , with a dystrophic pattern on muscle biopsy . these children are usually hypotonic and may have joint contractures . the serum creatine kinase level can be...
متن کاملullrich congenital muscular dystrophy
objective ullrich congenital muscular dystrophy is a rather severe type of congenital muscular dystrophy with early onset features related to motor development. in general it is inherited in autosomal recessive principles, however in the western world mostly seen with de novo dominant mutations in the collagen vi genes. milder form of the condition is the bethlem myopathy. there may be overlap ...
متن کاملMerosin-deficient congenital muscular dystrophy type 1A.
Merosin-deficient congenital muscular dystrophy type 1A (MDC1A) is the most common form of congenital muscular dystrophy. MDC1A is caused by mutation of the laminin alpha-2 gene (LAMA2), localized to chromosome 6q22-23. The diagnosis of merosin-deficient CMD is based on the clinical findings of severe congenital hypotonia, weakness, with high blood levels of creatine kinase, WM abnormalities, a...
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ژورنال
عنوان ژورنال: Molecular Genetics and Metabolism
سال: 2013
ISSN: 1096-7192
DOI: 10.1016/j.ymgme.2013.06.016