[Nemaline myopathy (clinico-morphologic study)].
For the first time in Soviet literature a description of 2 cases is given; both sibs demonstrate a muscular weakness, hypotension, moderately expressed hypotrophy of the body muscles, extremities and face. There were also specific bone anomalies. An electron-microscopic study detected typical "nemaline structures" in the muscular fibres. The disease in both sibs was identical even in details. The authors discuss the possible mechanisms of motor disorders. Besides personal material the paper contains the main facts of modern literature in relation to the clinical picture and pathogenesis of nemaline myopathy.
D001247:Asthenia; D002648:Child; D005260:Female; D006801:Humans; D008297:Male; D008854:Microscopy, Electron; D009132:Muscles / Q000648:ultrastructure*; D009135:Muscular Diseases / Q000151:congenital* / Q000473:pathology; D009210:Myofibrils / Q000648:ultrastructure; D013577:Syndrome
Nemalinovaia miopatiia (kliniko-morfologicheskoe issledovanie).