[Proximal muscular dystrophy with contractures and malignant course: is it a variant of Emery-Dreifuss disease?].
The authors relate a unique observation of the familial form of proximal myodystrophy with early contractures and malignant course. The primary character of muscular injury was confirmed on electromyography. The data of electrocardiography and echocardiography attested to the presence in the patients of the signs of cardiomyopathy. Since the disease was diagnosed in 3 brothers, the X-coupled recessive type of its inheritance is assumed. An opinion is advanced that the described form is a clinical variety of Emery-Dreyfus myodystrophy.
Badalian
L o
Lo
Temin
P A
PA
Kalinin
V A
VA
Arkhipov
B A
BA
Zabadenko
N N
NN
Voloshina
T G
TG
Lysov
V L
VL
D000328:Adult; D003286:Contracture / Q000175:diagnosis / Q000209:etiology / Q000235:genetics*; D003937:Diagnosis, Differential; D006801:Humans; D008141:Lordosis / Q000175:diagnosis / Q000209:etiology / Q000235:genetics*; D008159:Lumbar Vertebrae / Q000002:abnormalities; D008297:Male; D009136:Muscular Dystrophies / Q000145:classification / Q000150:complications / Q000175:diagnosis / Q000235:genetics*; D010375:Pedigree
Proksimal'naia miodistrofiia s kontrakturami i zlokachestvennym techeniem--variant bolezni Emeri-Dreĭfussa?