The coexistence of dynamin 2 mutation and multiple mitochondrial DNA (mtDNA) deletions in the background of severe cardiomyopathy and centronuclear myopathy

Aniko Gal, Gabriella Inczedy-Farkas, Endre Pal, Viktoria Remenyi, Benjamin Bereznai, Laszlo Geller, Zsolt Szelid, Bela Merkely, Maria Judit Molnar

Research output: Contribution to journalArticle

8 Citations (Scopus)

Abstract

Dynamin2 (DNM2) gene mutations may result in Charcot-Marie-Tooth disease and centronuclear myopathy. Here, we present a patient suffering from cardiomyopathy and centronuclear myopathy with repetitive discharges and mild axonal neuropathy due to DNM2 mutation. Detailed cardiological and neurological examinations, electrophysiological tests, muscle biopsy, and molecular genetic analysis were performed. The patient developed left bundle branch block at age 40 and was fitted with a pacemaker at the age of 43. The patient has severe heart failure, ptosis, strabism, facial and proximal muscle weakness. Electrophysiological investigations found myopathy, complex repetitive discharges, and axonal neuropathy. Skeletal muscle biopsy detected centronuclear myopathy and cytochrome C oxidase (COX) negative fibers. Genetic analysis detected a pathogenic c.1105C>T (p.R369W) DNM2 gene mutation and heteroplasmic multiple mitochondrial DNA (mtDNA) deletion. Our data broadens the phenotypic spectrum of DNM2 mutations. The presence of the multiple mtDNA deletions may provide new aspects to understanding the pathogenesis of multisystemic symptoms in patients with DNM2 mutations.

Original languageEnglish
Pages (from-to)89-95
Number of pages7
JournalClinical Neuropathology
Volume34
Issue number2
DOIs
Publication statusPublished - Jan 1 2015

Keywords

  • Cardiomyopathy
  • Centronuclear myopathy
  • Dynamin 2 mutation
  • Mitochondrial DNA (mtDNA) deletion
  • Repetitive discharge

ASJC Scopus subject areas

  • Pathology and Forensic Medicine
  • Neurology
  • Clinical Neurology

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