Muscular dystrophy, limb-girdle, autosomal recessive 6
| Disorder | |
|---|---|
| OMIM #: | #601287 (Click to access OMIM database) |
| Disorder: | Muscular dystrophy, limb-girdle, autosomal recessive 6 |
| Also known as: | LGMDR4 MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2E LGMD2E |
| Clinical | |
| Phenotype: | muscle weakness, myopathy, absence of sarcoglycan proteins increased serum creatine kinase |
| Seen In: |
Amish Old Order Mennonite Old Colony Mennonite Unknown/Other Mennonite Hutterite |
| Remarks: | Autosomal recessive |
| 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: | 2022-11-08 |
| 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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