Neuropathy, distal hereditary motor
OMIM:608634Mode of inheritance:Autosomal recessive
Disease classification:Diseases of the nervous system
Mutations
| Gene Symbol | HSJ1 |
|---|---|
| Reference transcript | NM_006736.5 |
| DNA Change | c.352+1G>A |
| A.A. Change | |
| Exon/Intron | intron 5 |
| Mutation Type | substitution |
| Reference | Blumen SC, Astord S, Robin V, Vignaud L, Toumi N, Cieslik A, Achiron A, Carasso RL, Gurevich M, Braverman I, Blumen N, Munich A, Barkats M, Viollet L.A rare recessive distal hereditary motor neuropathy with HSJ1 chaperone mutation. Ann Neurol. 2012 Apr;71(4):509-19. |