ID: 71

Disease Name: Limb-girdle muscular dystrophy, type 2B

Description: An autosomal recessive form of limb-girde muscular dystrophy caused by mutations in the DYSF gene and characterized by onset between 15 and 25 years and slow progression, lack of upper limb involvement, increased variation in muscle fiber size, elevated serum creatine kinase, and rarely amyloid deposits in muscle fibers.

Disease Type: Amyloidosis

ICD-10 Classification: Diseases of the Nervous System

Tissue: Skeletal Muscles

Cross References
https://www.ncbi.nlm.nih.gov/pubmed/18306167

http://apps.who.int/classifications/icd10/browse/2016/en#/G71

https://meshb.nlm.nih.gov/record/ui?ui=C535899

https://www.omim.org/entry/253601

Alternative Names:
LGMD2B
LGMD3
Muscular Dystrophy, Limb-Girdle, Type 2B
Muscular dystrophy, limb-girdle, type 3
Limb-girdle muscular dystrophy due to dysferlin deficiency
Autosomal recessive limb-girdle muscular dystrophy type 2B

Precursor Proteins:
O75923 | Dysferlin


Co-deposited Proteins:
No information available



Link to Amyloidosis: 
	No information available
//