Muscular dystrophy, congenital merosin-deficient
OMIM:607855Mode of inheritance:Autosomal recessive
Disease classification:Diseases of the nervous system
Mutations
| Gene Symbol | LAMA2 |
|---|---|
| Reference transcript | NM_000426.3 |
| DNA Change | c.1377delC |
| A.A. Change | p.Tyr460ThrfsX14 |
| Exon/Intron | exon 10 |
| Mutation Type | deletion |
| Reference | Allamand V, Guicheney P.Merosin-deficient congenital muscular dystrophy, autosomal recessive (MDC1A, MIM#156225, LAMA2 gene coding for alpha2 chain of laminin). Eur J Hum Genet. 2002 Feb;10(2):91-4. |