title: X-linked myopathy with excessive autophagy: a new hereditary muscle disease.
abstract: We report on 3 brothers with a myopathy that also affected their maternal grandfather and great-uncle. Characteristic features are onset in early childhood, very slow progression, normal life expectancy, weakness of proximal limb muscles, especially in the legs, elevation of serum creatine kinase, and no cardiac or intellectual involvement. In biopsy material muscle fibers are almost never necrotic but show excessive autophagic activity and exocytosis of the phagocytosed material. We suggest that this family has an undescribed type of congenital myopathy, for which we propose the name X-linked myopathy with excessive autophagy.
mesh_terms: D000328:Adult; D001343:Autophagy; D001706:Biopsy; D005808:Genes, Recessive; D008040:Genetic Linkage; D006801:Humans; D008297:Male; D008854:Microscopy, Electron; D009123:Muscle Hypotonia / Q000235:genetics* / Q000473:pathology; D009132:Muscles / Q000473:pathology; D009133:Muscular Atrophy / Q000235:genetics* / Q000473:pathology; D010375:Pedigree; D010587:Phagocytosis; D012150:Polymorphism, Restriction Fragment Length; D012729:Sex Chromosome Aberrations / Q000235:genetics*; D014057:Tomography, X-Ray Computed; D014960:X Chromosome