Amish, Mennonite, and Hutterite
Genetic Disorder Database

Muscular dystrophy, limb-girdle, type 2E

Disorder
OMIM #: #604286  (Click to access OMIM database)
Disorder: Muscular dystrophy, limb-girdle, type 2E 
Also known as:  
Clinical
Phenotype: Progressive weakness, atrophy which predominates in the shoulder, pelvic girdle, and trunk, facial muscles are unaffected, hypotonicity, muscle weakness 
Seen In: Amish
Old Order Mennonite
Old Colony Mennonite
Unknown/Other Mennonite
Hutterite
Remarks:  
Mutations
1   Amish  
Gene: B-sarcoglycan
Base Change: C>G, at nucleotide 461
Amino Acid Change: thr 151 --> arg
Last updated: 2015-12-02 

References
Lim L, Duclos F, Broux O, Bourg N, Sunada Y, Allamand V, Meyer J, Richard I, Moomaw C, Slaughter C, Tome F, Fardeau M, Jackson C, Beckmann J, and Campbell K. (1995) B-sarcoglycan: characterization and role in limb-gridle muscular dystrophy linked to 4q12. Nature genetics 11: 257-265.
PubMed ID: 7581448 

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