Gerson Suarez-Cedeno1, Thomas Winder, Margherita Milone. 1. Medical School, Department of Neurology, Mayo Clinic Foundation, 200 First Street SW, Rochester, Minnesota, 55905, USA; Universidad de Antioquia, Medellin, Colombia.
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.
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 DNAJB6myopathy is more frequent than previously believed; congophilic inclusions may be present in the muscle of these patients.
Authors: Alessandra Ruggieri; Francesco Brancati; Simona Zanotti; Lorenzo Maggi; Maria Barbara Pasanisi; Simona Saredi; Chiara Terracciano; Carlo Antozzi; Maria Rosaria D Apice; Federica Sangiuolo; Giuseppe Novelli; Christian R Marshall; Stephen W Scherer; Lucia Morandi; Luca Federici; Roberto Massa; Marina Mora; Berge A Minassian Journal: Acta Neuropathol Commun Date: 2015-07-25 Impact factor: 7.801
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