Case report of late diagnosis of Emery-Dreifuss muscular dystrophy associated with mutation in the LMNA gene
https://doi.org/10.1234/XXXX-XXXX-2016-8-33-35
Abstract
The paper presents a case report of muscular dystrophy manifested in the 5-year-old patient in muscles weakness of the upper and lower extremities. The Becker muscular dystrophy was diagnosed on the basis of clinical symptoms, electromyogram data, activity of creatine phosphokinase and «mild form» of dystrophy. The cardiac abnormalities manifested in age of 40 years in irregular heart rhythm and conduction disease, ventricular dilatation and left ventricular systolic dysfunction indicated lamin-associated genesis of Emery-Dreifuss muscular dystrophy (EDMD). Analysis of lamin A/C gene ( LMNA ) revealed heterozygous mutation с.1247С>G ( Thr528Arg , rs57629361, NM_001257374.2) in exon 9. The mutation was not found in first-degree relatives. The study of pedigrees showed that EDMD has not been characterized for the patient’s family previously, as well as other types of muscular dystrophy.
About the Authors
L. N. Sivitskaya
Institute of Genetics and Cytology, National Academy of Sciences
Russian Federation
Russian Federation
T. G. Vaikhanskaya
Republican Scientific and Practical Center of Cardiology
Russian Federation
Russian Federation
N. G. Danilenko
Institute of Genetics and Cytology, National Academy of Sciences
Russian Federation
Russian Federation
T. V. Kurushka
Republican Scientific and Practical Center of Cardiology
Russian Federation
Russian Federation
O. G. Davydenko
Institute of Genetics and Cytology, National Academy of Sciences
Russian Federation
Russian Federation
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Review
For citations:
Sivitskaya L.N., Vaikhanskaya T.G., Danilenko N.G., Kurushka T.V., Davydenko O.G. Case report of late diagnosis of Emery-Dreifuss muscular dystrophy associated with mutation in the LMNA gene. Medical Genetics. 2016;15(8):33-35. (In Russ.) https://doi.org/10.1234/XXXX-XXXX-2016-8-33-35
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