Autosomal dominant limb-girdle muscular dystrophy type 1B
Name: |
Autosomal dominant limb-girdle muscular dystrophy type 1B
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Description: |
A rare subtype of autosomal dominant limb girdle muscular dystrophy characterized by a variable age of onset of progressive shoulder and hip girdle weakness, with inferior limbs usually being affected prior to upper limbs, and mild joint contractures. It is also associated with cardiac dysrhythmias, including atrioventricular conduction blocks, and late-onset dilated cardiomyopathy, that may lead to sudden death.
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ORPHAcode: |
264
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Synonyms: |
LGMD1B
Limb-girdle muscular dystrophy due to lamin A/C deficiency
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XREF(s): | |
Analyte(s): | |
Created: |
13 May 2019 - 01:02
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Changed: |
01 Jul 2019 - 06:57
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