Bethlem myopathy

Bethlem myopathy
a genetically heterogeneous, autosomal dominant myopathy with onset in early infancy, caused by mutation in any of the three genes that encode collagen VI subunits. It is characterized by slowly progressive weakness of the upper arm and pelvic girdle muscles; hypotonia; delayed motor milestones; talipes; torticollis; and contractures of the ankles, hips, knees, and elbows.

Medical dictionary. 2011.

Игры ⚽ Поможем сделать НИР

Look at other dictionaries:

  • Bethlem myopathy — Infobox Disease Name = PAGENAME Caption = DiseasesDB = 32019 ICD10 = ICD9 = ICDO = OMIM = 158810 MedlinePlus = eMedicineSubj = eMedicineTopic = MeshID = Bethlem myopathy is an autosomal dominantcite journal |author=Jobsis GJ, Boers JM, Barth PG,… …   Wikipedia

  • Myopathy — Classification and external resources ICD 10 G71 G72, M60 M …   Wikipedia

  • Bethlem-Myopathie — Klassifikation nach ICD 10 G72.8 Sonstige näher bezeichnete Myopathien …   Deutsch Wikipedia

  • Myopathie de Bethlem — Classification et ressources externes OMIM 158810 DiseasesDB 32019 La myopathie de Bethlem est une maladie génétique musculaire de transmission autosomique dominante en rapport avec des …   Wikipédia en Français

  • Centronuclear myopathy — Classification and external resources Muscle biopsy from the quadriceps taken at 3 months of age from a girl with X linked centronuclear ( myotubular ) myopathy due to a mutation in the myotubularin (MTM1) gene and extremely skewed X inactivation …   Wikipedia

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

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

  • Inflammatory myopathy — Classification and external resources Micrograph of dermatomyositis, a type of inflammatory myopathy. Muscle biopsy. H E stain …   Wikipedia

  • Mitochondrial myopathy — Classification and external resources Simplified structure of a typical mitochondrion ICD 10 G …   Wikipedia

  • COL6A1 — Collagen, type VI, alpha 1, also known as COL6A1, is a human gene.cite web | title = Entrez Gene: COL6A1 collagen, type VI, alpha 1| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene Cmd=ShowDetailView TermToSearch=1291| accessdate = ] PBB… …   Wikipedia

Share the article and excerpts

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