Medical dictionary. 2011.
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
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… … 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
Actina — G (código PDB … Wikipedia Español
Dysferlin — Dysferlin, limb girdle muscular dystrophy 2B (autosomal recessive) Identifiers Symbols DYSF; FER1L1; FLJ00175; FLJ90168; LGMD2B External IDs … Wikipedia
Oculopharyngeal muscular dystrophy — Classification and external resources ICD 10 G71.0 ICD 9 359.1 … Wikipedia
List of diseases (D) — A list of diseases in the English wikipedia.DiseasesTOC D* D ercole syndromeDa* Daentl Towsend Siegel syndrome * Dahlberg Borer Newcomer syndrome * Daish Hardman Lamont syndrome * Dandy Walker facial hemangioma * Dandy Walker malformation… … Wikipedia
Muskeldystrophie — Muskeldystrophien, auch progressive Muskeldystrophie (Dystrophia musculorum progressiva), sind eine Gruppe von Muskelerkrankungen. Es handelt sich um Erbkrankheiten, die durch Mutationen im Erbgut verursacht werden, welche meist zu Defekten oder… … Deutsch Wikipedia
