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Article

The clinical-phenotype continuum in DYNC1H1-related disorders-genomic profiling and proposal for a novel classification.

Journal of human genetics - 1 Nov 2020

Becker Lena-Luise, Dafsari Hormos Salimi, Schallner Jens, Abdin Dalia, Seifert Michael, Petit Florence, Smol Thomas, Bok Levinus, Rodan Lance, Krapels Ingrid, Spranger Stephanie, Weschke Bernhard, Johnson Katherine, Straub Volker, Kaindl Angela M, Di Donato Nataliya, von der Hagen Maja, Cirak Sebahattin

Abstract excerpt

Mutations in the cytoplasmic dynein 1 heavy chain gene (DYNC1H1) have been identified in rare neuromuscular (NMD) and neurodevelopmental (NDD) disorders such as spinal muscular atrophy with lower extremity dominance (SMALED) and autosomal dominant mental retardation syndrome 13 (MRD13). Phenotypes and genotypes of ten pediatric patients with pathogenic DYNC1H1 variants were analyzed in a multi-center study. Data...

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Identifiers

PMID: 32788638
DOI: 10.1038/s10038-020-0803-1
PMCID: PMC7719554

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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