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Article dans une revue

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.
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Article dans une revue
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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 : mercredi 20 mars 2019 - 18:26:59

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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, 92 (2), pp.188-198. ⟨10.1111/cge.12985⟩. ⟨hal-01553190⟩

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