Muscular dystrophy, limb-girdle, autosomal recessive 1
| Disorder | |
|---|---|
| OMIM #: | #253600 (Click to access OMIM database) |
| Disorder: | Muscular dystrophy, limb-girdle, autosomal recessive 1 |
| Also known as: | LGMD, type 2A LGMD, type 2 muscular dystrophy, pelvofemoral Leyden-Moebius muscular dystrophy calpainopathy LGMD |
| Clinical | |
| Phenotype: | Progressive weakness, atrophy which predominates in the shoulder, pelvic girdle, and trunk, hypotonia, symptoms appear in first 2 decades of life and ability to walk is lost within 10-20 years of onset, muscle weakness, elevated serum creatine kinase |
| Seen In: |
Amish Old Order Mennonite Old Colony Mennonite Unknown/Other Mennonite Hutterite |
| Remarks: | Autosomal recessive |
| Mutations | |
| 1 Amish | |
| Gene: | CAPN3 |
| Base Change: | G>A, at nucleotide 2306 |
| Amino Acid Change: | arg 769 --> gln |
| Last updated: | 2022-11-08 |
| 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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