Bethlem myopathy

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, de Visser M |title=Bethlem myopathy: a slowly-progressive congenital muscular dystrophy with contractures |journal=Brain |volume=122 |issue=4 |pages=649–655 |year=1999 |pmid=10219778 |doi=10.1093/brain/122.4.649 ] myopathy, classified as a congenital form of muscular dystrophy, that is caused by a variation in one of the three genes coding for type VI collagen.

Onset begins in childhood, but disease progession is extremely slow, with symptoms of weakness and walking difficulties usually not presenting until past age 50.

External links

* [http://www.neuro.wustl.edu/neuromuscular/pathol/bethlemhand.htm Image at wustl.edu]

References


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