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Polyglucosan body myopathy caused by defective ubiquitin ligase RBCK1
Author(s) -
Nilsson Johanna,
Schoser Benedikt,
Laforet Pascal,
Kalev Ognian,
Lindberg Christopher,
Romero Norma B.,
Dávila López Marcela,
Akman Hasan O.,
Wahbi Karim,
Iglseder Stephan,
Eggers Christian,
Engel Andrew G.,
DiMauro Salvatore,
Oldfors Anders
Publication year - 2013
Publication title -
annals of neurology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 4.764
H-Index - 296
eISSN - 1531-8249
pISSN - 0364-5134
DOI - 10.1002/ana.23963
Subject(s) - myopathy , cardiomyopathy , missense mutation , medicine , ubiquitin ligase , glycogen storage disease , weakness , muscle weakness , ubiquitin , skeletal muscle , glycogen , heart failure , biology , mutation , genetics , anatomy , gene
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