Recessive MYH7-related myopathy in two families
نویسندگان
چکیده
منابع مشابه
Autosomal recessive distal myopathy.
Five patients with an autosomally recessively transmitted distal myopathy were investigated. Of these, three belonged to a single sibship. Studies included electromyography, histological examination of muscle tissue, histochemical, electron microscopical, and biochemical analyses. One of the cases resembled the Nonaka form while the others were regarded as expressions of the commoner variety of...
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Studies of marrow regulation were carried out in two families with recessively expressed erythrocytosis. The erythrocytosis in the affected individuals was associated with increased erythropoietin (ESF) production. However, hormone production was uninfluenced by alterations In the 02 carrying capacity of the blood when the hematocrit was lowered acutely by phlebotomy. Hemoglobin and red cell fu...
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ژورنال
عنوان ژورنال: Neuromuscular Disorders
سال: 2019
ISSN: 0960-8966
DOI: 10.1016/j.nmd.2019.04.002