Familial granulovacuolar lobular myopathy with electrical myotonia.
We report 3 patients with a myopathy characterized by profound selective muscle wasting and weakness, electrical myotonia without clinical myotonia and an unusual muscle biopsy. Cryostat sections showed muscle fibers with vacuoles containing hematoxylinophilic granules, and 30% of type I fibers showed demarcation of their sarcoplasm into "lobules" due apparently to reorganization of myofibrillar elements. The electrical myotonia suggests an underlying muscle membrane defect. Two of the patients are siblings suggesting that the disorder may be inherited.
D000328:Adult; D001706:Biopsy; D003594:Cytoplasmic Granules / Q000648:ultrastructure*; D003937:Diagnosis, Differential; D004576:Electromyography; D005260:Female; D006801:Humans; D007773:Lactates / Q000097:blood; D008297:Male; D009046:Motor Neurons / Q000502:physiology; D009132:Muscles / Q000473:pathology; D009133:Muscular Atrophy / Q000235:genetics / Q000473:pathology; D009224:Myotonia Congenita / Q000175:diagnosis / Q000235:genetics* / Q000473:pathology; D009431:Neural Conduction; D009940:Organoids / Q000648:ultrastructure*; D009435:Synaptic Transmission; D014617:Vacuoles / Q000648:ultrastructure*; D000520:alpha-Glucosidases / Q000378:metabolism
D007773:Lactates; D000520:alpha-Glucosidases