title: Congenital fiber type disproportion myopathy in Lowe syndrome.
abstract: Two brothers with the typical clinical features of oculocerebro-renal syndrome of Lowe exhibited delays in developmental milestones, muscular weakness and hypotonia, and high serum creatine kinase activity. The biopsied muscle revealed selective type 1 fiber atrophy and mild type 1 fiber predominance, similar to that observed in congenital fiber type disproportion myopathy. The abnormal fiber type distribution may be responsible for the common finding of muscle hypotonia in this syndrome.
authors.affiliation: Department of Pediatrics, Tsuchiura Kyoudou Hospital, Ibaraki, Japan.
authors.forename: J
authors.initials: J
authors.lastname: Kohyama
authors.forename: F
authors.initials: F
authors.lastname: Niimura
authors.forename: K
authors.initials: K
authors.lastname: Kawashima
authors.forename: Y
authors.initials: Y
authors.lastname: Iwakawa
authors.forename: I
authors.initials: I
authors.lastname: Nonaka
mesh_terms: D001284:Atrophy; D002675:Child, Preschool; D006801:Humans; D008297:Male; D009135:Muscular Diseases / Q000209:etiology / Q000235:genetics / Q000473:pathology*; D009800:Oculocerebrorenal Syndrome / Q000150:complications* / Q000235:genetics; D015499:Renal Tubular Transport, Inborn Errors / Q000150:complications*