Amish, Mennonite, and Hutterite
Genetic Disorder Database

Muscular dystrophy, limb-girdle, type 2A

Disorder
OMIM #: #253600  (Click to access OMIM database)
Disorder: Muscular dystrophy, limb-girdle, type 2A 
Also known as: Leyden-Moebius muscular dystrophy, calpainopathy, LGMD 
Clinical
Phenotype: Progressive weakness, atrophy which predominates in the shoulder, pelvic girdle, and trunk, facial muscles are unaffected, hypotonicity, symptoms appear in first 2 decades of life and ability to walk is lost within 10-20 years of onset, muscle weakness 
Seen In: Amish
Old Order Mennonite
Old Colony Mennonite
Unknown/Other Mennonite
Hutterite
Remarks:  
Mutations
1   Amish  
Gene: CAPN3
Base Change: G>A, at nucleotide 2306
Amino Acid Change: arg 769 --> gln
Last updated: 2017-05-01 

References
Allamand V, Broux O, Bourg N, Richard I, Tischfield JA, Hodes ME, Conneally PM, Fardeau M, Jackson CE, and Beckmann JS. (1995) Genetic heterogeneity of autosomal recessive limb-girdle muscular dystrophy in a genetic isolate (Amish) and evidence for a new locus. Human Molecular Genetics 4(3): 459-463.
PubMed ID: 7795603 
Allamand V, Broux O, Richard I, Fougerousse F, Chiannilkulchai N, Bourg N, Brenguier L, Devaud C, Pasturaud P, Pereira de Souza A, Roudaut C, Tischfield J, Conneally P, Fardeau M, Cohen D, Jackson C, and Beckmann J. (1995) Preferential Localization of the Limb-Girdle Muscular Dystrophy Typoe 2A Gene in the Proximal Part of a 1-cM 15q15.1-q15.3 Interval. Am. J. Hum. Genet. 56: 1417-1430.
PubMed ID: 7762565 
Richard I, Broux O, Allamand V, Fougerousse F, Chiannilkulchai N, Bourg N, Brenguier L, Devaud C, Pasturaud P, Roudaut C, Hillaire D, Passos-Bueno MR, Zatz M, Tischfield J, Fardeau M, Jackson C, Cohen D, and Beckmann J. (1995) Mutations in the Proteolytic Enzyme Calpain 3 Cause Limb-Girdle Muscular Dystrophy Type 2A. Cell 81: 27-40.
PubMed ID: 7720071 
Young K, Williams P, Foround T, Jackson CE, Beckmann J, Cohen D, Conneally P, Tischfield J, and Hodes ME. (1992) Confirmation of linkage of limb-girdle muscular dystrophy, type 2, to chromosome 15. Genomics 13(4): 1370-1371.
PubMed ID: 1505977 

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