In:
Annals of Neurology, Wiley, Vol. 74, No. 6 ( 2013-12), p. 914-919
Abstract:
Glycogen storage diseases are important causes of myopathy and cardiomyopathy. We describe 10 patients from 8 families with childhood or juvenile onset of myopathy, 8 of whom also had rapidly progressive cardiomyopathy, requiring heart transplant in 4. The patients were homozygous or compound heterozygous for missense or truncating mutations in RBCK1 , which encodes for a ubiquitin ligase, and had extensive polyglucosan accumulation in skeletal muscle and in the heart in cases of cardiomyopathy. We conclude that RBCK1 deficiency is a frequent cause of polyglucosan storage myopathy associated with progressive muscle weakness and cardiomyopathy. Ann Neurol 2013;74:914–919
Type of Medium:
Online Resource
ISSN:
0364-5134
,
1531-8249
Language:
English
Publisher:
Wiley
Publication Date:
2013
detail.hit.zdb_id:
80362-5
detail.hit.zdb_id:
2037912-2
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