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Limb-girdle muscular dystrophy, type 2B MeSH Supplementary Concept Data 2024


MeSH Supplementary
Limb-girdle muscular dystrophy, type 2B
Unique ID
C535899
RDF Unique Identifier
http://id.nlm.nih.gov/mesh/C535899
Entry Term(s)
LGMD2B
LGMD3
Muscular Dystrophy, Limb-Girdle, Type 2B
Muscular dystrophy, limb-girdle, type 3
Registry Number
0
Heading Mapped to
*Muscular Dystrophies, Limb-Girdle
Frequency
46
Note
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. OMIM: 253601
Date of Entry
2010/08/25
Revision Date
2015/09/26
Limb-girdle muscular dystrophy, type 2B Preferred
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