Limb-girdle muscular dystrophy, type 2B [Supplementary Concept]

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 introduced: August 25, 2010

MeSH Unique ID: C535899

Heading Mapped to:

• Muscular Dystrophies, Limb-Girdle

Entry Terms:

• Muscular dystrophy, limb-girdle, type 3
• LGMD3
• LGMD2B
• Muscular Dystrophy, Limb-Girdle, Type 2B