Case report of a child with combined genetic pathology: cystic fibrosis and facioscapulohumeral progressive muscular dystrophy

Case report of a child with combined genetic pathology: cystic fibrosis and facioscapulohumeral progressive muscular dystrophy

The article presents a rare case of a child with a laboratory confirmed combination of several inherited diseases: cystic fibrosis (mutations F508del and E92K) and facioscapulohumeral progressive muscular dystrophy (FSHD). Through the example of the case authors describe the clinical findings of the...

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Bibliographic Details
Main Authors: O. A. Klochkova, A. L. Kurenkov, A. M. Mamedyarov, H. M. Karimova
Format: Article
Language:Russian
Published: ABV-press 2015-02-01
Series:Нервно-мышечные болезни
Subjects:
facioscapulohumeral muscular dystrophy
landouzy–dejerine muscular dystrophy
cystic fibrosis
electromyography
progressive muscular dystrophy
Online Access:https://nmb.abvpress.ru/jour/article/view/12
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