hereditary inclusion body myopathy

hereditary inclusion body myopathy
any of a group of distal myopathies characterized by inclusion bodies with rimmed vacuoles. An autosomal recessive type is due to mutation in the GNE gene (locus: 9p13.3), which encodes a key enzyme in sialic acid biosynthesis. It has onset between the ages of 20 and 40 and affects primarily the lower limbs but spares the quadriceps muscles until late in the course. An autosomal dominant type is due to mutation in the MYHC2A gene (locus: 17p13.1), which encodes a myosin heavy chain. It affects the quadriceps muscles first. A rare third type, allelic with the autosomal recessive type, is Nonaka distal myopathy.

Medical dictionary. 2011.

Игры ⚽ Поможем написать реферат

Look at other dictionaries:

  • Hereditary inclusion body myopathy — Hereditary inclusion body myopathies (HIBM) are a heterogeneous group of genetic disorders which have different symptoms. Generally, they are neuromuscular disorders characterized by muscle weakness developing in young adults. Hereditary… …   Wikipedia

  • Inclusion body myositis — Classification and external resources ICD 10 M60.8 [1] ICD 9 …   Wikipedia

  • Nonaka myopathy — Nonaka distal myopathy a rare, autosomal recessive myopathy due to mutation in the GNE gene (locus: 9p13.3), which encodes a key enzyme in sialic acid biosynthesis; it is allelic with autosomal recessive hereditary inclusion body myopathy. It is… …   Medical dictionary

  • distal myopathy — any of numerous forms of muscular dystrophy, varying in mode of inheritance and age of onset, that affect first the feet and hands and progress to involve more proximal muscle groups. Among the disorders included here are Welander distal m. and… …   Medical dictionary

  • GNE (gene) — Glucosamine (UDP N acetyl) 2 epimerase/N acetylmannosamine kinase, also known as GNE, is a human gene.cite web | title = Entrez Gene: GNE glucosamine (UDP N acetyl) 2 epimerase/N acetylmannosamine kinase| url =… …   Wikipedia

  • Sporadische Einschlusskörpermyositis — Die Einschlusskörpermyositis (Inclusion Body Myositis; IBM) zählt zu der Gruppe der entzündlichen Muskelerkrankungen. Der Begriff „Inclusion Body Myositis“ wurde 1971 geprägt. [1] Allerdings wurden bereits 1967 im Muskelgewebe eines Patienten mit …   Deutsch Wikipedia

  • NAGK — N acetylglucosamine kinase PDB rendering based on 2ch5 …   Wikipedia

  • Medical genetics of Jewish people — The medical genetics of Jewish people is the study, screening and treatment of genetic disorders that are more common in particular Jewish populations than in the population as a whole.[1] The genetics of Ashkenazi Jews have been particularly… …   Wikipedia

  • Disease — Illness or sickness often characterized by typical patient problems (symptoms) and physical findings (signs). Disruption sequence: The events that occur when a fetus that is developing normally is subjected to a destructive agent such as the… …   Medical dictionary

  • List of diseases (M) — A list of diseases in the English wikipedia.DiseasesTOC MaMac* Mac Ardle disease * Mac Dermot Patton Williams syndrome * Mac Dermot Winter syndromeMaci Macr* Macias Flores Garcia Cruz Rivera syndrome * Mackay Shek Carr syndrome * Macleod Fraser… …   Wikipedia

Share the article and excerpts

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