title: X-linked recessive myotubular myopathy proven by muscle biopsy.
abstract: We report a baby boy, the third child of a nonconsanguineous couple, with congenital myotubular myopathy. At birth, he had generalized hypotonia and respiratory distress. On physical examination, an elongated apathetic face, high-arched palate, bilateral ptosis, funnel chest, frog-leg posture, little spontaneous movement of the limbs and areflexia were observed. A chest x-ray revealed thin ribs and clavicles. The infant died 54 days after birth despite intensive management. The mother, a healthy 32-year-old female, displayed myotubes on muscle biopsy which suggested an X-linked recessive inheritance pattern for myotubular myopathy. This report illustrates the importance of taking a detailed family history as well as a muscle biopsy in the diagnosis of X-linked recessive myotubular myopathy.
authors.affiliation: Department of Pediatrics, China Medical College Hospital, Taichung.
authors.forename: C H
authors.initials: CH
authors.lastname: Tsai
authors.forename: W S
authors.initials: WS
authors.lastname: Huang
authors.forename: F J
authors.initials: FJ
authors.lastname: Tsai
authors.forename: C C
authors.initials: CC
authors.lastname: Lee
authors.forename: S S
authors.initials: SS
authors.lastname: Chen
mesh_terms: D001706:Biopsy; D005808:Genes, Recessive; D008040:Genetic Linkage; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D018482:Muscle, Skeletal / Q000473:pathology*; D009135:Muscular Diseases / Q000235:genetics* / Q000473:pathology; D010375:Pedigree; D014960:X Chromosome