Variants in the genes DCTN2, DNAH10, LRIG3, and MYO1A are associated with intermediate Charcot-Marie-Tooth disease in a Norwegian family.

Braathen, G J; Høyer, H; Busk, Ø L; Tveten, K; Skjelbred, C F; Russell, M B

Braathen, G J; Høyer, H; Busk, Ø L; Tveten, K; Skjelbred, C F; Russell, M B.

Affiliation

Braathen GJ; Head and Neck Research Group, Research Centre, Akershus University Hospital, Lørenskog, Oslo, Norway.
Høyer H; Institute of Clinical Medicine, Campus Akershus University Hospital, University of Oslo, Nordbyhagen, Oslo, Norway.
Busk ØL; Section of Medical Genetics, Department of Laboratory Medicine, Telemark Hospital, Skien, Norway.
Tveten K; Head and Neck Research Group, Research Centre, Akershus University Hospital, Lørenskog, Oslo, Norway.
Skjelbred CF; Institute of Clinical Medicine, Campus Akershus University Hospital, University of Oslo, Nordbyhagen, Oslo, Norway.
Russell MB; Section of Medical Genetics, Department of Laboratory Medicine, Telemark Hospital, Skien, Norway.

Acta Neurol Scand ; 134(1): 67-75, 2016 Jul.

Article de En | MEDLINE | ID: mdl-26517670

Sujet(s)
Mots clés

Charcot-Marie-Tooth disease; DCTN2; exome sequencing; inherited neuropathy; targeted next-generation sequencing

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Texte intégral: 1 Collection: 01-internacional Base de données: MEDLINE Sujet principal: Maladie de Charcot-Marie-Tooth / Chaînes lourdes de myosine / Myosine de type I / Dynéines de l'axonème / Complexe dynactine / Protéines membranaires Type d'étude: Risk_factors_studies Limites: Humans Pays/Région comme sujet: Europa Langue: En Journal: Acta Neurol Scand Année: 2016 Type de document: Article Pays d'affiliation: Norvège

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