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CZECH MEDICAL ASSOCIATION J. Ev. PURKYNĚ |
| Journals - Article | |
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| Česky / Czech version | Čs. Patol., 37, 2001, No. 2, p. 69-71 |
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Congenital Myopathy with Hypoplasia of Type 2
Fibres Pavlovský Z., Lukáš Z., Kunčíková M., Zakoutová A.: II. PAÚ LF MU Brno, DN FNB, Brno Klinika dětské neurologie FNsP, Ostrava |
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Summary: 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.
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