Myotubular X-linked myopathy
https://doi.org/10.30629/2658-7947-2023-28-3-44-49
Abstract
Myotubular (centronuclear) myopathy is a rare hereditary disease with primary muscle damage and clinical manifestations of congenital myopathy. The article describes a clinical case of myotubular myopathy in a boy who was observed by us from the age of 2 months to 2 years 5 months. The disease was manifested by muscle weakness, hypotension, respiratory failure, peripheral tetraparesis, bulbar disorders, the need for artificial lung ventilation and probe nutrition.
About the Authors
L. B. Novikova
Bashkir State Medical University
Russian Federation
Russian Federation
Ufa
A. P. Akopian
Bashkir State Medical University
Russian Federation
Russian Federation
Ufa
K. M. Sharapova
Bashkir State Medical University
Russian Federation
Russian Federation
Sharapova Karina Maratovna
Ufa
R. F. Latypova
Bashkir State Medical University
Russian Federation
Russian Federation
Ufa
N. M. Faizullina
Bashkir State Medical University
Russian Federation
Russian Federation
Ufa
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Review
For citations:
Novikova L.B., Akopian A.P., Sharapova K.M., Latypova R.F., Faizullina N.M. Myotubular X-linked myopathy. Russian neurological journal. 2023;28(3):44-49. (In Russ.) https://doi.org/10.30629/2658-7947-2023-28-3-44-49
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