Article
Increased diagnostic yield in complex dystonia through exome sequencing.
Parkinsonism & related disorders - 1 May 2020
Wirth Thomas, Tranchant Christine, Drouot Nathalie, Keren Boris, Mignot Cyril, Cif Laura, Lefaucheur Romain, Lion-François Laurence, Méneret Aurélie, Gras Domitille, Roze Emmanuel, Laroche Cécile, Burbaud Pierre, Bannier Stéphanie, Lagha-Boukbiza Ouhaid, Spitz Marie-Aude, Laugel Vincent, Bereau Matthieu, Ollivier Emmanuelle, Nitschke Patrick, Doummar Diane, Rudolf Gabrielle, Anheim Mathieu, Chelly Jamel
Abstract excerpt
INTRODUCTION: A strategy based on targeted gene panel sequencing identifies possibly pathogenic variants in fewer than 20% of cases in early-onset and familial form of dystonia. By using Whole Exome Sequencing (WES), we aimed to identify the missing genetic causes in dystonic patients without diagnosis despite gene panel sequencing. MATERIAL AND METHODS: WES was applied to DNA samples from 32 patients with...
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