Amish, Mennonite, and Hutterite
Genetic Disorder Database

Muscular dystrophy, limb-girdle, autosomal recessive 4

Disorder
OMIM #: #601287  (Click to access OMIM database)
Disorder: Muscular dystrophy, limb-girdle, autosomal recessive 4 
Also known as: LGMDR4 MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2E
LGMD2E  
Clinical
Phenotype:  
Seen In: Amish
Old Order Mennonite
Old Colony Mennonite
Unknown/Other Mennonite
Hutterite
Remarks:  
Mutations
1   Amish  
Gene: SGCB
Base Change: C>T, at nucleotide 271
Amino Acid Change:
2   Amish  
Gene: SGCB
Base Change: C>G, at nucleotide 452
Amino Acid Change:
Last updated: 2020-02-03 

References
Allamand V, Broux O, Bourg N, Richard I, Tischfield JA, Hodes ME, Conneally PM, Fardeau M, Jackson CE, Beckmann JS. (1995) Genetic heterogeneity of autosomal recessive limb-girdle muscular dystrophy in a genetic isolate (Amish) and evidence for a new locus. . Hum Mol Genet 4(3):459-463.
PubMed ID: 7795603 
Jackson CE, Strehler DA. (1968) Limb-girdle muscular dystrophy: clinical manifestations and detection of preclinical disease . Pediatrics 41(2):495-502.
PubMed ID: 5637795 
Lim LE, Duclos F, Broux O, Bourg N, Sunada Y, Allamand V, Meyer J, Richard I, Moomaw C, Slaughter C, et al.. (1995) Beta-sarcoglycan: characterization and role in limb-girdle muscular dystrophy linked to 4q12. . Nat Genet 11(3):257-265.
PubMed ID: 7581448 

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