Afficher la couverture 'Further delineation of a rare recessive encephalomyopathy linked to mutations in GFER thanks to data sharing of whole exome sequencing data. | Nambot, Sophie' en grand format
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Further delineation of a rare recessive encephalomyopathy linked to mutations in GFER thanks to data sharing of whole exome sequencing data.

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Nambot, Sophie | Thevenon, Julien | Bruel, Ange-Line | Houcinat, Nada | Kuentz, Paul | Lehalle, Daphne | Duffourd, Yannis | Riviere, Jean-Baptiste | Thauvin-Robinet, Christel | Faivre, Laurence

Edité par CCSD ; Wiley -

International audience. 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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