DNAJB6 myopathy: A vacuolar myopathy with childhood onset

Gerson Suarez-Cedeno, Thomas Winder, Margherita Milone

Research output: Contribution to journalArticlepeer-review

14 Scopus citations

Abstract

Introduction: DNAJB6 mutations cause an autosomal dominant myopathy that can manifest as limb-girdle muscular dystrophy (LGMD1D/1E) or distal-predominant myopathy. In the majority of patients this myopathy manifests in adulthood and shows vacuolar changes on muscle biopsy. Methods: Clinical, electrophysiological, pathological, and molecular findings are reported. Results: We report a 56-year-old woman, who, like 3 other family members, became symptomatic in childhood with slowly progressive limb-girdle muscle weakness, normal serum creatine kinase (CK) values, and myopathic electromyographic findings. Muscle biopsy showed vacuolar changes and congophilic inclusions, and molecular analysis revealed a pathogenic mutation in the DNAJB6 gene. Differences and similarities with previously described cases are assessed. Conclusions: Childhood-onset of DNAJB6 myopathy is more frequent than previously believed; congophilic inclusions may be present in the muscle of these patients.

Original languageEnglish (US)
Pages (from-to)607-610
Number of pages4
JournalMuscle and Nerve
Volume49
Issue number4
DOIs
StatePublished - Apr 2014

Keywords

  • Congophilic inclusions
  • DNAJB6
  • LGMD1D
  • LGMD1E
  • Limb-girdle muscular dystrophy
  • Vacuolar myopathy

ASJC Scopus subject areas

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

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