title: Clinical variability of congenital myopathy with type 1 fiber atrophy: a long-term observation of three cases.
abstract: The variable clinical courses of three cases of congenital fiber type disproportion (CFTD) over a period of 10 years are presented. All showed improvement in early childhood, but subsequently, varying degrees of deterioration were noted: specifically, marked deterioration in case 2 and decreased muscle strength in case 3. Maximal motor function levels were attained differently among the cases. Histological findings included type 1 fiber hypotrophy and increased internal nuclei in common in all cases. Fine structural changes, such as patchy areas of myofibrillar degeneration, were noted in cases 1 and 2 (second biopsy), and cytoplasmic bodies were seen in case 2 (second biopsy). Myotubes were noted in case 3. The degree of cyto-architectural changes did not correlate with clinical severity. The heterogeneity of CFTD is also discussed.
authors.affiliation: Department of Pediatrics, Tokyo Women's Medical College, Japan.
authors.forename: K
authors.initials: K
authors.lastname: Shishikura
authors.forename: M
authors.initials: M
authors.lastname: Osawa
authors.forename: H
authors.initials: H
authors.lastname: Suzuki
authors.forename: Y
authors.initials: Y
authors.lastname: Hirayama
authors.forename: Y
authors.initials: Y
authors.lastname: Arai
authors.forename: S
authors.initials: S
authors.lastname: Sumida
authors.forename: R
authors.initials: R
authors.lastname: Takahashi
authors.forename: Y
authors.initials: Y
authors.lastname: Fukuyama
mesh_terms: D000293:Adolescent; D000328:Adult; D002648:Child; D002675:Child, Preschool; D006801:Humans; D008297:Male; D009132:Muscles / Q000648:ultrastructure; D009135:Muscular Diseases / Q000151:congenital* / Q000473:pathology