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

Clinical spectrum of CMT4C disease in patients homozygous for the p.Arg1109X mutation in SH3TC2.

Neuromuscular disorders : NMD - 1 Jul 2006

Colomer Jaume, Gooding Rebecca, Angelicheva Dora, King Rosalind H M, Guillén-Navarro Encarna, Parman Yesim, Nascimento Andres, Conill Joan, Kalaydjieva Luba

Abstract excerpt

We investigated the manifestations of CMT4C disease in a genetically homogeneous group of patients homozygous for the recently identified Gypsy founder mutation p.Arg1109X in SH3TC2. We observed a surprising degree of variation in age at onset, rate of progression, extent and severity of motor an...

Read the complete abstract on PubMed

Topics

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

Share to Age of Onset
Share to Charcot-Marie-Tooth Disease
Share to Founder Effect

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Homozygote

Share to Intracellular Signaling Peptides and Proteins

Share to Point Mutation

Share to Proteins

Source

Identifiers

PMID: 16806930
DOI: 10.1016/j.nmd.2006.05.005

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-16806930-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Clinical spectrum of CMT4C disease in patients homozygous for the p.Arg1109X mutation in SH3TC2.PMID 16806930Read ↗

Founder SH3TC2 mutations are responsible for a CMT4C French-Canadians cluster.Semantic proximity Read ↗

Phenotypic variability of CMT4C in a French-Canadian kindred.Semantic proximity Read ↗

A novel Gypsy founder mutation, p.Arg1109X in the CMT4C gene, causes variable peripheral neuropathy phenotypes.Semantic proximity Read ↗

A Chinese kindred report of Charcot-Marie-Tooth Disease Type 4C with the novel compound heterozygous variants in the SH3TC2 gene and a systematic reviewSemantic proximity Read ↗

Neuropathy due to bi-allelic SH3TC2 variants: genotype-phenotype correlation and natural history.Semantic proximity Read ↗

Charcot-Marie-Tooth Disease type 4C: Novel mutations, clinical presentations, and diagnostic challenges.Semantic proximity Read ↗

High frequency of SH3TC2 mutations in Czech HMSN I patients.Semantic proximity Read ↗

Spine deformities in Charcot-Marie-Tooth 4C caused by SH3TC2 gene mutations.Semantic proximity Read ↗

Mutations in a gene encoding a novel SH3/TPR domain protein cause autosomal recessive Charcot-Marie-Tooth type 4C neuropathy.Semantic proximity Read ↗

Screening for SH3TC2 gene mutations in a series of demyelinating recessive Charcot-Marie-Tooth disease (CMT4).Semantic proximity Read ↗

Nationwide Phenotypic and Genotypic Characterisation of 103 Patients With SH3TC2 Gene-Related Demyelinating Peripheral Neuropathy.Semantic proximity Read ↗

Characteristics of clinical and electrophysiological pattern of Charcot-Marie-Tooth 4C.Semantic proximity Read ↗

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