Abnormal merosin in adults. A new form of late onset muscular dystrophy not linked to chromosome 6q2
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چکیده
منابع مشابه
Abnormal merosin in adults. A new form of late onset muscular dystrophy not linked to chromosome 6q2.
We have identified seven patients (including two sib pairs) with a predominantly late onset limb-girdle muscular dystrophy in whom an absence of merosin was noted on immunoblotting. Merosin immunocytochemistry was normal, and no abnormalities were detected on immunostaining for the various proteins known to be involved in the limb-girdle muscular dystrophies (alpha, beta, gamma, delta sarcoglyc...
متن کاملRefinement of the laminin alpha2 chain locus to human chromosome 6q2 in severe and mild merosin deficient congenital muscular dystrophy.
About half of the children with classical congenital muscular dystrophy (CMD) show an absence in their skeletal muscle of laminin alpha2 chain, one of the components of the extracellular matrix protein, merosin. Linkage analysis implicated the laminin alpha2 chain gene (LAMA2) on chromosome 6q2, now confirmed by the discovery of mutations in the laminin alpha2 chain gene. We have further invest...
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Two related cases of a proximal muscular dystrophy are described with the full postmortem findings in one of them. The strong family history is recorded. The condition was clinically predominant in the proximal limb muscles and showed an autosomal dominant type of inheritance with complete penetrance.
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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An English family is described several members of which have suffered from oculopharyngeal muscular dystrophy. No symptoms were noticed in any affected members of the family until aged at least 50 years. An autosomal dominant pattern of inheritance is clearly shown.
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ژورنال
عنوان ژورنال: Brain
سال: 1998
ISSN: 1460-2156
DOI: 10.1093/brain/121.4.581