Maternal muscle biopsy in X-linked recessive centronuclear (myotubular) myopathy.
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.
Breningstall
G N
GN
Department of Pediatrics (Neurology), Park Nicollet Medical Center, Minneapolis, Minnesota.
Grover
W D
WD
Marks
H G
HG
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