Muscular dystrophy, limb-girdle, autosomal recessive 4
| Disorder | |
|---|---|
| OMIM #: | #604286 (Click to access OMIM database) |
| Disorder: | Muscular dystrophy, limb-girdle, autosomal recessive 4 |
| Also known as: | Muscular dystrophy, limb-girdle, type 2 LGMDR4 LGMD2E |
| Clinical | |
| Phenotype: | Progressive weakness, atrophy which predominates in the shoulder, pelvic girdle, and trunk, facial muscles are unaffected, hypotonia, muscle weakness, decreased sarcyglycan 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>G, at nucleotide 461 |
| Amino Acid Change: | thr 151 --> arg |
| Last updated: | 2024-09-24 |
| 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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