- desmin myopathy
- desmin-related myopathy myofibrillar m.
Medical dictionary. 2011.
desmin myopathy
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Desmin — Identifiers Symbols DES; CMD1I; CSM1; CSM2; FLJ12025; FLJ39719; FLJ41013; FLJ41793 External IDs … Wikipedia
Desmin-related myofibrillar myopathy — Classification and external resources OMIM 601419 Desmin related myofibrillar myopathy is a subgroup of the myofibrillar myopathy diseases and is the result of a mutation in the gene that codes for desmin which prevents it from forming protein… … Wikipedia
Nemaline myopathy — Classification and external resources ICD 10 G71.2 ICD 9 359.0 … Wikipedia
myofibrillar myopathy — any of several hereditary muscle conditions characterized by abnormal desmin in the myofibrils; affected persons have muscle weakness in distal parts of the limbs and cardiomyopathy. Both autosomal dominant and recessive types have been observed … Medical dictionary
Десмин — белок промежуточных филаментов, находящихся рядом с Z линией в саркомерах. Он был получен в чистом виде в 1977 г., отвечающий за него ген был идентифицирован в 1989 г., а первая нокаутная мышь с отключенным геном десмина была создана в 1996 г.[1] … Википедия
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