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 language | English (US) |
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Pages (from-to) | 607-610 |
Number of pages | 4 |
Journal | Muscle and Nerve |
Volume | 49 |
Issue number | 4 |
DOIs | |
State | Published - 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)