Further delineation of a rare recessive encephalomyopathy linked to mutations in GFER thanks to data sharing of whole exome sequencing data.

Abstract : Alterations in GFER gene have been associated with progressive mitochondrial myopathy, congenital cataracts, hearing loss, developmental delay, lactic acidosis and respiratory chain deficiency in 3 siblings born to consanguineous Moroccan parents by homozygosity mapping and candidate gene approach (OMIM#613076). Next generation sequencing recently confirmed this association by the finding of compound heterozygous variants in 19-year-old girl with a strikingly similar phenotype, but this ultra-rare entity remains however unknown from most of the scientific community.
Type de document :
Article dans une revue
Clinical Genetics, Wiley, 2017, 〈www.wiley.com/〉. 〈10.1111/cge.12985〉
Liste complète des métadonnées

https://hal-univ-bourgogne.archives-ouvertes.fr/hal-01553190
Contributeur : Gad - Université de Bourgogne <>
Soumis le : lundi 3 juillet 2017 - 14:51:53
Dernière modification le : mardi 6 février 2018 - 15:56:21

Identifiants

Collections

Citation

Sophie Nambot, Julien Thevenon, Ange-Line Bruel, Nada Houcinat, Paul Kuentz, et al.. Further delineation of a rare recessive encephalomyopathy linked to mutations in GFER thanks to data sharing of whole exome sequencing data.. Clinical Genetics, Wiley, 2017, 〈www.wiley.com/〉. 〈10.1111/cge.12985〉. 〈hal-01553190〉

Partager

Métriques

Consultations de la notice

23