Congenital Myopathy with Hypoplasia of Type 2Fibres

Authors: Z. Pavlovský;  Z. Lukáš;  M. Kunčíková;  A. Zakoutová
Authors‘ workplace: II. PAÚ LF MU Brno, DN FNB, Brno Klinika dětské neurologie FNsP, Ostrava
Published in: Čes.-slov. Patol., , 2001, No. 2, p. 69-71


An atypical case of congenital myopathy characterised by a low frequency of hypoplastic type 2Afibres, type 2B fibre deficiency and type 1 fibre predominance is reported. Our patients aresiblings, a 10 year old girl and a 7 year old boy. Both children suffered from ophthalmoplegia andmuscle weakness, and the boy also showed signs of psychomotoric retardation. A muscle biopsyfrom musculus trapezius has shown type 1 fibre predominance and hypoplastic type 2 fibres.

Key words:
congenital myopathy - hypoplasia - type 2 fibre

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