title: Maternal muscle biopsy in X-linked recessive centronuclear (myotubular) myopathy.
abstract: Muscle biopsy was used to attempt determination of carrier status in mothers and maternal relatives of patients with severe neonatal centronuclear (myotubular) myopathy, an X-linked recessive disorder. We report findings from muscle biopsies of 3 mothers, one an obligate carrier. All biopsies showed abnormalities of nonspecific character. Whether such abnormalities assist in defining carrier status is uncertain. A more specific tissue marker for this disorder is required before muscle biopsy will facilitate carrier identification.
authors.affiliation: Department of Pediatrics (Neurology), Park Nicollet Medical Center, Minneapolis, Minnesota.
authors.forename: G N
authors.initials: GN
authors.lastname: Breningstall
authors.forename: W D
authors.initials: WD
authors.lastname: Grover
authors.forename: H G
authors.initials: HG
authors.lastname: Marks
mesh_terms: D001706:Biopsy; D005808:Genes, Recessive; D008040:Genetic Linkage; D006579:Heterozygote; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D009132:Muscles / Q000002:abnormalities* / Q000473:pathology; D014960:X Chromosome