Myopathy, early-onset, with fatal cardiomyopathy
OMIM:611705Mode of inheritance:Autosomal recessive
Disease classification:Diseases of the nervous system
Mutations
| Gene Symbol | TTN |
|---|---|
| Reference transcript | NM_133378.4 |
| DNA Change | c.98963delA |
| A.A. Change | p.Lys32988AsnfsX6 |
| Exon/Intron | exon 309 |
| Mutation Type | deletion |
| Reference | Carmignac V, Salih MA, Quijano-Roy S, Marchand S, Al Rayess MM, Mukhtar MM, Urtizberea JA, Labeit S, Guicheney P, Leturcq F, Gautel M, Fardeau M, Campbell KP, Richard I, Estournet B, Ferreiro A.C-terminal titin deletions cause a novel early-onset myopathy with fatal cardiomyopathy. Ann Neurol. 2007 Apr;61(4):340-51. |