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Updated: Jun 6, 2026

Investigating the Pathogenesis of MYH7 Mutation Gly823Glu in Familial Hypertrophic Cardiomyopathy using a Mouse Model
Published on: August 8, 2022
Hereditary inclusion-body myopathy associated with cardiomyopathy: report of two siblings
Yaohui Chai1, Tulio E Bertorini, Frank A McGrew
1Department of Neurology, University of Tennessee Health Science Center, 415 Link Building, University of Tennessee Health Science Center, 855 Monroe Avenue, Memphis, Tennessee 38163, USA.
Abstract:
Hereditary inclusion-body myopathy (HIBM) or distal myopathy with rimmed vacuoles (DMRV) is an autosomal recessive disorder characterized by preferential involvement of distal muscles in the lower extremities, especially the anterior compartment of the legs, with relative preservation of the quadriceps.This is referred to as quadriceps-sparing myopathy. Previous reports have revealed exclusive involvement in skeletal muscles. Herein we describe two siblings with typical HIBM/DMRV. The patients developed exertional dyspnea 20-26 years after disease onset. Echocardiogram revealed a cardiomyopathy in both patients. This is the first report of the association between HIBM/DMRV and cardiomyopathy.
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