Affiliation:
1. Bashkir State Medical University
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.
Publisher
Medical Informational Agency Publishers
Subject
Psychiatry and Mental health,Neurology (clinical),Neurology