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Article

A novel pathogenic variant in DYNC1H1 causes various upper and lower motor neuron anomalies.

European journal of medical genetics - 1 Dec 2020

Viollet Louis M, Swoboda Kathryn J, Mao Rong, Best Hunter, Ha Youna, Toutain Annick, Guyant-Marechal Lucie, Laroche-Raynaud Cecile, Ghorab Karima, Barthez Marie Anne, Pedespan Jean Michel, Hernandorena Xavier, Lia Anne-Sophie, Deleuze Jean-Francois, Masson Cecile, Nelson Isabelle, Nectoux Juliette, Si Yue

Abstract excerpt

OBJECTIVE: To perform genotype-phenotype, clinical and molecular analysis in a large 3-generation family with autosomal dominant congenital spinal muscular atrophy. METHODS: Using a combined genetic approach including whole genome scanning, next generation sequencing-based multigene panel, whole genome sequencing, and targeted variant Sanger sequencing, we studied the proband and multiple affected individuals of...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 32947049
DOI: 10.1016/j.ejmg.2020.104063

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