title: X-linked myotubular myopathy: intrafamilial variability and normal muscle biopsy in a heterozygous female.
abstract: The myotubular myopathies are a heterogeneous group of muscle disorders in which x-linked, autosomal recessive, and autosomal dominant inheritance have been reported. Female carriers of x-linked myotubular myopathy have been reported to have abnormal muscle biopsies. We report a woman who had a normal muscle biopsy but who had 2 sons with myotubular myopathy by different fathers, indicating that a normal muscle biopsy of the mother cannot exclude x-linked inheritance. The quantity of fetal activity correlated with the severity of the disorder in this pedigree.
mesh_terms: D000328:Adult; D001706:Biopsy; D005260:Female; D008040:Genetic Linkage; D006579:Heterozygote; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D009132:Muscles / Q000473:pathology*; D009135:Muscular Diseases / Q000235:genetics*; D010375:Pedigree; D014960:X Chromosome