Muscular dystrophy, limb-girdle, type 2D
OMIM:608099Mode of inheritance:Autosomal recessive
Disease classification:Diseases of the nervous system
Mutations
| Gene Symbol | SGCA |
|---|---|
| DNA Change | insertion of 8bp |
| A.A. Change | Frameshift |
| Exon/Intron | exon 5 |
| Mutation Type | insertion |
| Reference | Piccolo F, Roberds SL, Jeanpierre M, Leturcq F, Azibi K, Beldjord C, Carrie A, Recan D, Chaouch M, Reghis A, et al.Primary adhalinopathy: a common cause of autosomal recessive muscular dystrophy of variable severity. Nat Genet. 1995 Jun;10(2):243-5. |
Variant not named according to HGVS recommendations