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
Category:

Overview

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

Full text is not available online.
If interested in a scan of this journal, contact NTO ČLS JEP.

Labels
Anatomical pathology Forensic medical examiner Toxicology
Login
Forgotten password

Don‘t have an account?  Create new account

Forgotten password

Enter the email address that you registered with. We will send you instructions on how to set a new password.

Login

Don‘t have an account?  Create new account