myofibrillar myopathy

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. Called also desmin m. and desmin-related m.

Medical dictionary. 2011.

Игры ⚽ Нужно сделать НИР?

Look at other dictionaries:

  • 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

  • myopathy — myopathic /muy euh path ik/, adj. /muy op euh thee/, n. Pathol. any abnormality or disease of muscle tissue. [1840 50; MYO + PATHY] * * * ▪ pathology       any skeletal muscle disorder that directly affects the muscle fibres and does not arise… …   Universalium

  • myopathy — Any abnormal condition or disease of the muscular tissues; commonly designates a disorder involving skeletal muscle. [myo + G. pathos, suffering] carcinomatous m. SYN: Lambert Eaton syndrome. centronuclear m. slowly …   Medical dictionary

  • Nemaline myopathy — Classification and external resources ICD 10 G71.2 ICD 9 359.0 …   Wikipedia

  • desmin myopathy — desmin related myopathy myofibrillar m …   Medical dictionary

  • Myotilin — Rendering based on PDB 2KDG …   Wikipedia

  • Desmin — Identifiers Symbols DES; CMD1I; CSM1; CSM2; FLJ12025; FLJ39719; FLJ41013; FLJ41793 External IDs …   Wikipedia

  • MYOT — Myotilin, also known as MYOT, is a human gene.cite web | title = Entrez Gene: MYOT myotilin| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene Cmd=ShowDetailView TermToSearch=9499| accessdate = ] PBB Summary section title = summary text =… …   Wikipedia

  • Limb-girdle muscular dystrophy — Classification and external resources ICD 10 G71.0 ICD 9 359.1 …   Wikipedia

  • Emery–Dreifuss muscular dystrophy — For other uses of EDMD , see Everybody Draw Mohammed Day. Emery–Dreifuss muscular dystrophy Classification and external resources ICD 10 G71.0 ICD 9 …   Wikipedia

Share the article and excerpts

Direct link
Do a right-click on the link above
and select “Copy Link”