Discover Community Create You

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

Upper motor neuron signs and early onset gait abnormalities in young children with bi-allelic VWA1 variants.

American journal of medical genetics. Part A - 1 Dec 2022

Gable Dustin L, Mo Alisa, Estrella Elicia, Saffari Afshin, Ghosh Partha S, Ebrahimi-Fakhari Darius

Abstract excerpt

Bi-allelic loss-of-function variants in Von Willebrand factor type A (VWA1) were recently discovered to lead to an early onset motor neuropathy or neuromyopathy. What makes this discovery particularly notable is the high frequency of one of the VWA1 (NM_022834.5) founder variants, c.62_71dup (p.Gly25ArgfsTer74), which nears 0.01% in European populations, and suggests that there may be a wide spectrum of disease...

Read the complete abstract on PubMed

Topics

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

Share to Alleles
Share to Child, Preschool

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Extracellular Matrix Proteins

Share to Loss of Heterozygosity

Share to Motor Neurons

Share to Phenotype

Source

Identifiers

PMID: 35975723
DOI: 10.1002/ajmg.a.62953

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Upper motor neuron signs and early onset gait abnormalities in young children with bi-allelic VWA1 variants.PMID 35975723Read ↗

Autosomal recessive VWA1 -related disorder: comprehensive analysis of phenotypic variability and genetic mutationsSemantic proximity Read ↗

Bi-allelic truncating mutations in VWA1 cause neuromyopathy.Semantic proximity Read ↗

An ancestral 10-bp repeat expansion in VWA1 causes recessive hereditary motor neuropathy.Semantic proximity Read ↗

Genetic alterations of VWA1: a new link between extracellular matrix and neuromuscular diseases.Semantic proximity Read ↗

A Novel de novo KIF1A Mutation in a Patient with Ataxia, Intellectual Disability and Mild Foot Deformity.Semantic proximity Read ↗

New phenotype of DCTN1-related spectrum: early-onset dHMN plus congenital foot deformity.Semantic proximity Read ↗

Phenotypic and genotypic heterogeneity in hereditary motor neuronopathy type V: a clinical, electrophysiological and genetic study.Semantic proximity Read ↗

Expanding the phenotype of DYNC1H1-associated diseases with a rare variant resulting in spinal muscular atrophy with lower extremity predominance (SMA-LED) and upper motor neuron signs.Semantic proximity Read ↗

Asymmetric phenotype associated with rare myelin protein zero mutation.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 ↗

Myelin protein zero Arg36Gly mutation with very late onset and rapidly progressive painful neuropathy.Semantic proximity Read ↗

Late-onset lower motor neuronopathy: a new autosomal dominant disorder.Semantic proximity Read ↗

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