Lipodystrophy, congenital generalized, type 4
OMIM:613327Mode of inheritance:Autosomal recessive
Disease classification:Endocrine, nutritional and metabolic disease
Mutations
| Gene Symbol | PTRF |
|---|---|
| Reference transcript | NM_012232.5 |
| DNA Change | c.947delA |
| A.A. Change | p.Tyr316Serfs*103 |
| Exon/Intron | exon 2 |
| Mutation Type | deletion |
| Reference | Ardissone A, Bragato C, Caffi L, Blasevich F, Maestrini S, Bianchi ML, Morandi L, Moroni I, Mora M.Novel PTRF mutation in a child with mild myopathy and very mild congenital lipodystrophy. BMC Med Genet. 2013 Sep 11;14:89. |