Hereditary inclusion-body myopathy associated with cardiomyopathy

Report of two siblings

Yaohui Chai, Tulio Bertorini, Frank A. McGrew

Research output: Contribution to journalArticle

7 Citations (Scopus)

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.

Original languageEnglish (US)
Pages (from-to)133-136
Number of pages4
JournalMuscle and Nerve
Volume43
Issue number1
DOIs
StatePublished - Jan 1 2011

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Cardiomyopathies
Siblings
Nonaka type Distal myopathy
Muscular Diseases
Dyspnea
Lower Extremity
Leg
Skeletal Muscle
Muscles

All Science Journal Classification (ASJC) codes

  • Physiology
  • Clinical Neurology
  • Cellular and Molecular Neuroscience
  • Physiology (medical)

Cite this

Hereditary inclusion-body myopathy associated with cardiomyopathy : Report of two siblings. / Chai, Yaohui; Bertorini, Tulio; McGrew, Frank A.

In: Muscle and Nerve, Vol. 43, No. 1, 01.01.2011, p. 133-136.

Research output: Contribution to journalArticle

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