Mitochondrial complex V (ATP synthase) deficiency, nuclear type 1
OMIM:604273Mode of inheritance:Autosomal recessive
Disease classification:Endocrine, nutritional and metabolic disease
Mutations
| Gene Symbol | ATPAF2 |
|---|---|
| Reference transcript | NM_145691.3 |
| DNA Change | c.280T>A |
| A.A. Change | p.Trp94Arg |
| Exon/Intron | exon 3 |
| Mutation Type | substitution |
| Reference | De Meirleir L, Seneca S, Lissens W, De Clercq I, Eyskens F, Gerlo E, Smet J, Van Coster R.Respiratory chain complex V deficiency due to a mutation in the assembly gene ATP12. J Med Genet. 2004 Feb;41(2):120-4. |