Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

DYNC1H1-related disorders: A description of four new unrelated patients and a comprehensive review of previously reported variants.

American journal of medical genetics. Part A - 1 Sept 2020

Amabile Sonia, Jeffries Lauren, McGrath James M, Ji Weizhen, Spencer-Manzon Michele, Zhang Hui, Lakhani Saquib A

Abstract excerpt

Heterozygous variants in the DYNC1H1 gene have been associated chiefly with intellectual disability (ID), malformations in cortical development (MCD), spinal muscular atrophy (SMA), and Charcot-Marie-Tooth axonal type 20 (CMT), with fewer reports describing other intersecting phenotypes. To better characterize the variable syndromes associated with DYNC1H1, we undertook a detailed analysis of reported patients in...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Charcot-Marie-Tooth Disease
Share to Child, Preschool

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Cytoplasmic Dyneins

Share to Heterozygote

Share to Infant

Share to Malformations of Cortical Development

Share to Muscular Atrophy, Spinal

Share to Mutation, Missense

Source

Identifiers

PMID: 32656949
DOI: 10.1002/ajmg.a.61729

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

DYNC1H1-related disorders: A description of four new unrelated patients and a comprehensive review of previously reported variants.PMID 32656949Read ↗

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

Mutation screen reveals novel variants and expands the phenotypes associated with DYNC1H1.Semantic proximity Read ↗

Expanding the phenotypic spectrum associated with mutations of DYNC1H1.Semantic proximity Read ↗

Novel mutations in the DYNC1H1 tail domain refine the genetic and clinical spectrum of dyneinopathies.Semantic proximity Read ↗

A novel pathogenic variant in DYNC1H1 causes various upper and lower motor neuron anomalies.Semantic proximity Read ↗

Exome Sequencing Identifies De Novo DYNC1H1 Mutations Associated With Distal Spinal Muscular Atrophy and Malformations of Cortical Development.Semantic proximity Read ↗

Whole-exome sequencing identifies a novel de novo variant in DYNC1H in a patient with intractable epilepsy.Semantic proximity Read ↗

Expanding the Phenotypic and Genetic Spectrum of Neuromuscular Diseases Caused by DYNC1H1 MutationsSemantic proximity Read ↗

Novel dynein DYNC1H1 neck and motor domain mutations link distal spinal muscular atrophy and abnormal cortical development.Semantic proximity Read ↗

A recurrent de novo DYNC1H1 tail domain mutation causes spinal muscular atrophy with lower extremity predominance, learning difficulties and mild brain abnormality.Semantic proximity Read ↗

DYNC1H1 variants associated with infant-onset epilepsy without neurodevelopmental disorders.Semantic proximity Read ↗

Clinical features and genotype-phenotype correlations in epilepsy patients with de novo DYNC1H1 variants.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.