An allelic variant of congenital Salih myopathy
Abstract
The paper describes the steps and problems of diagnosing congenital myopathy with early respiratory disorders. While differentially diagnosing, the authors consider congenital myopathies, in which early cardiac involvement is encountered. Since the course of the disease in an observed female patient differed from that of such nosological entities and appeared as not only muscle weakness, but also as early respiratory disorders, we could not identify what nosological entity the disease belonged to in view of its clinical presentation and the results of muscle histological examination and we decided to perform exome sequencing. Molecular genetic testing could find heterozygous mutations in the titin (TTN) gene. The findings are suggestive of congenital proximal myopathy with early respiratory failure, which is an allelic variant of Salih myopathy. This case is the first and so far only description of this disease in Russia.
About the Authors
M. S. Belenikin
Research and Practical Center of Medical Care for Children with Craniofacial Anomalies and Congenital Diseases of the Nervous System, Moscow
Russian Federation
Russian Federation
S. S. Zhilina
Research and Practical Center of Medical Care for Children with Craniofacial Anomalies and Congenital Diseases of the Nervous System, Moscow
Russian Federation
Russian Federation
A. A. Barinov
Moscow Cancer Hospital Sixty-Two
Russian Federation
Russian Federation
M. Yu. Shоrina
Research and Practical Center of Medical Care for Children with Craniofacial Anomalies and Congenital Diseases of the Nervous System, Moscow
Russian Federation
Russian Federation
N. O. Bryukhanova
Research and Practical Center of Medical Care for Children with Craniofacial Anomalies and Congenital Diseases of the Nervous System, Moscow
Russian Federation
Russian Federation
R. M. Magomedova
N.I. Pirogov Russian National Research Medical University, Moscow
Russian Federation
Russian Federation
T. I. Meshcheryakova
Research and Practical Center of Medical Care for Children with Craniofacial Anomalies and Congenital Diseases of the Nervous System, Moscow
Russian Federation
Russian Federation
A. N. Petrin
Research and Practical Center of Medical Care for Children with Craniofacial Anomalies and Congenital Diseases of the Nervous System, Moscow
Russian Federation
Russian Federation
I. A. Demidova
Moscow Cancer Hospital Sixty-Two
Russian Federation
Russian Federation
G. G. Prokopiev
Research and Practical Center of Medical Care for Children with Craniofacial Anomalies and Congenital Diseases of the Nervous System, Moscow
Russian Federation
Russian Federation
G. R. Mutovin
N.I. Pirogov Russian National Research Medical University, Moscow
Russian Federation
Russian Federation
A. G. Prityko
Research and Practical Center of Medical Care for Children with Craniofacial Anomalies and Congenital Diseases of the Nervous System, Moscow
Russian Federation
Russian Federation
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Review
For citations:
Belenikin M.S., Zhilina S.S., Barinov A.A., Shоrina M.Yu., Bryukhanova N.O., Magomedova R.M., Meshcheryakova T.I., Petrin A.N., Demidova I.A., Prokopiev G.G., Mutovin G.R., Prityko A.G. An allelic variant of congenital Salih myopathy. Rossiyskiy Vestnik Perinatologii i Pediatrii (Russian Bulletin of Perinatology and Pediatrics). 2015;60(3):89-93. (In Russ.)
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