title: [Congenital myopathy with type 2 fiber hypoplasia].
abstract: An atypical case of congenital myopathy characterised by a low frequency of hypoplastic type 2A fibres, type 2B fibre deficiency and type 1 fibre predominance is reported. Our patients are siblings, a 10 year old girl and a 7 year old boy. Both children suffered from ophthalmoplegia and muscle weakness, and the boy also showed signs of psychomotoric retardation. A muscle biopsy from musculus trapezius has shown type 1 fibre predominance and hypoplastic type 2 fibres.
authors.affiliation: II. PAU LF MU Brno, DN FNB, Brno.
authors.forename: Z
authors.initials: Z
authors.lastname: Pavlovský
authors.forename: Z
authors.initials: Z
authors.lastname: Lukás
authors.forename: M
authors.initials: M
authors.lastname: Kuncíková
authors.forename: A
authors.initials: A
authors.lastname: Zakoutová
mesh_terms: D002648:Child; D005260:Female; D006801:Humans; D008297:Male; D018656:Muscle Fibers, Fast-Twitch / Q000473:pathology*; D020914:Myopathies, Structural, Congenital / Q000175:diagnosis / Q000235:genetics / Q000473:pathology*