DNAJB6 myopathy: a vacuolar myopathy with childhood onset.

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.

• Authors: Gerson Suarez-Cedeno, Thomas Winder, Margherita Milone
• Journal: Muscle & nerve (Muscle Nerve) Vol. 49 Issue 4 Pg. 607-10 (Apr 2014) ISSN: 1097-4598 [Electronic] United States
• PMID: 24170373 (Publication Type: Case Reports, Journal Article)
• Copyright: Copyright © 2013 Wiley Periodicals, Inc.

Chemical References

• DNAJB6 protein, human
• HSP40 Heat-Shock Proteins
• Molecular Chaperones
• Nerve Tissue Proteins
• Creatine Kinase

Topics

• Child
• Creatine Kinase (blood)
• Disease Progression
• Electromyography
• Female
• HSP40 Heat-Shock Proteins (genetics)
• Humans
• Lysosomal Storage Diseases (diagnosis, genetics, physiopathology)
• Middle Aged
• Molecular Chaperones (genetics)
• Muscular Diseases (diagnosis, genetics, physiopathology)
• Nerve Tissue Proteins (genetics)
• Pedigree