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Article

Genetic characterization of non-5q proximal spinal muscular atrophy in a French cohort: the place of whole exome sequencing.

European journal of human genetics : EJHG - 1 Jan 2024

Theuriet Julian, Fernandez-Eulate Gorka, Latour Philippe, Stojkovic Tanya, Masingue Marion, Vidoni Léo, Bernard Emilien, Jacquier Arnaud, Schaeffer Laurent, Salort-Campana Emmanuelle, Chanson Jean-Baptiste, Pakleza Aleksandra Nadaj, Kaminsky Anne-Laure, Svahn Juliette, Manel Véronique, Bouhour Françoise, Pegat Antoine

Abstract excerpt

Proximal spinal muscular atrophy (SMA) is defined by a degeneration of the anterior horn cells resulting in muscle weakness predominantly in the proximal lower limbs. While most patients carry a biallelic deletion in the SMN1 gene (localized in chromosome 5q), little is known regarding patients without SMN1-mutation, and a genetic diagnosis is not always possible. Here, we report a cohort of 24 French patients...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 37337091
DOI: 10.1038/s41431-023-01407-8
PMCID: PMC10772122

Genes

DYNC1H1
SMN1
ASAH1
BICD2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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