Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0026850 (muscular dystrophy)
 5,870 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

The absence of dystrophin causes Duchenne muscular dystrophy. Dystrophin is associated with a large complex of sarcolemmal glycoproteins which provides a linkage to the extracellular matrix component, laminin, and when dystrophin is absent all the dystrophin-associated proteins are much reduced. We report here that dystrophin-associated proteins have abnormally low expression in Fukuyama-type congenital muscular dystrophy (FCMD), despite near-normal expression of dystrophin. An abnormality of dystrophin-associated proteins in the sarcolemma seems to be a common denominator in the pathological processes leading to muscle cell necrosis in three forms of severe muscular dystrophy (Duchenne, Japanese Fukuyama-type, and north African Duchenne-like autosomal recessive).
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PMID:Abnormal expression of dystrophin-associated proteins in Fukuyama-type congenital muscular dystrophy. 810 57

We report two children who were referred for diagnostic assessment for autism and were subsequently determined to have a muscular dystrophy (MD). Each child had a history of speech delay and social impairments, but also had motor delays that had not previously been investigated. Both children met diagnostic criteria for autism spectrum disorders on standardized assessment. Each child was hypotonic and had other mild motor impairments. Serum creatine kinase (CK) activity was markedly elevated in each child, and subsequent muscle biopsy led to diagnosis of Becker's MD and congenital (autosomal recessive) MD, respectively. These cases highlight the importance of a thorough neuromotor examination for all children with suspected autism spectrum disorders.
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PMID:Two children with muscular dystrophies ascertained due to referral for diagnosis of autism. 1275 59