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[Nemaline myopathy (clinico-morphologic study)]. 1978

N A Il'ina, and N A Sokolina, and Iu N Aver'ianov, and V V Korolev, and A N Golovakina

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.

UI MeSH Term Description Entries
D008297 Male Males
D008854 Microscopy, Electron Microscopy using an electron beam, instead of light, to visualize the sample, thereby allowing much greater magnification. The interactions of ELECTRONS with specimens are used to provide information about the fine structure of that specimen. In TRANSMISSION ELECTRON MICROSCOPY the reactions of the electrons that are transmitted through the specimen are imaged. In SCANNING ELECTRON MICROSCOPY an electron beam falls at a non-normal angle on the specimen and the image is derived from the reactions occurring above the plane of the specimen. Electron Microscopy
D009132 Muscles Contractile tissue that produces movement in animals. Muscle Tissue,Muscle,Muscle Tissues,Tissue, Muscle,Tissues, Muscle
D009135 Muscular Diseases Acquired, familial, and congenital disorders of SKELETAL MUSCLE and SMOOTH MUSCLE. Muscle Disorders,Myopathies,Myopathic Conditions,Muscle Disorder,Muscular Disease,Myopathic Condition,Myopathy
D009210 Myofibrils The long cylindrical contractile organelles of STRIATED MUSCLE cells composed of ACTIN FILAMENTS; MYOSIN filaments; and other proteins organized in arrays of repeating units called SARCOMERES . Myofilaments,Myofibril,Myofilament
D002648 Child A person 6 to 12 years of age. An individual 2 to 5 years old is CHILD, PRESCHOOL. Children
D005260 Female Females
D006801 Humans Members of the species Homo sapiens. Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D001247 Asthenia Clinical sign or symptom manifested as debility, or lack or loss of strength and energy.
D013577 Syndrome A characteristic symptom complex. Symptom Cluster,Cluster, Symptom,Clusters, Symptom,Symptom Clusters,Syndromes

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