myotonic dystrophy

myotonic dystrophy
An inherited human neuromuscular disease classed as an autosomal dominant disease in which there is progressive muscle weakening and wasting. Caused by an unstable nucleotide repeat (CTG) in the 3\' untranslated region.

Dictionary of molecular biology. 2004.

Look at other dictionaries:

  • Myotonic dystrophy — Classification and external resources ICD 10 G71.1 OMIM 160900 602668 …   Wikipedia

  • Myotonic dystrophy — An inherited disease in which the muscles contract but have decreasing power to relax this phenomenon is termed myotonia (irritability and prolonged contraction of muscles). The disease also leads to a mask like expressionless face, premature… …   Medical dictionary

  • myotonic dystrophy — noun a severe form of muscular dystrophy marked by generalized weakness and muscular wasting that affects the face and feet and hands and neck; difficult speech and difficulty with the hands that spreads to the arms and shoulders and legs and… …   Useful english dictionary

  • myotonic dystrophy — noun Medicine a form of muscular dystrophy accompanied by myotonia …   English new terms dictionary

  • myotonic dystrophy — noun Date: 1963 a muscular disorder that is characterized by dystrophic muscle weakness and myotonia affecting multiple bodily systems and that is caused by an abnormally high number of repeats of a codon in the genetic material …   New Collegiate Dictionary

  • myotonic dystrophy — dystrophia myotonica …   The new mediacal dictionary

  • Myotonic dystrophy protein kinase — Dystrophia myotonica protein kinase, also known as DMPK, is a human gene. PBB Summary section title = summary text = The protein encoded by this gene is a serine threonine kinase that is closely related to other kinases that interact with members …   Wikipedia

  • Myotonic Dystrophy Foundation — The Myotonic Dystrophy Foundation (MDF) is a non profit, 501 (c) (3) organization founded by families living with myotonic dystrophy (DM). Through education, advocacy and research, MDF is committed to establishing a voice and a face for this… …   Wikipedia

  • Дистрофия Миотоническая (Dystrophia Myotonica, Myotonic Dystrophy) — разновидность мышечной дистрофии, при которой имеют место мышечная слабость и атрофия мышц, сопровождающиеся неестественным удлинением мышечных сокращений после каждого произвольного движения (см. Миотония). Мышцы лица, височные и шейные мышцы… …   Медицинские термины

  • myotonic muscular dystrophy — n MYOTONIC DYSTROPHY …   Medical dictionary

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