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 features of homozygous FIG4-p.Ile41Thr Charcot-Marie-Tooth 4J patients.

Annals of clinical and translational neurology - 1 Feb 2021

Lafontaine Maxime, Lia Anne-Sophie, Bourthoumieu Sylvie, Beauvais-Dzugan Hélène, Derouault Paco, Arné-Bes Marie-Christine, Sarret Catherine, Laffargue Fanny, Magot Armelle, Sturtz Franck, Magy Laurent, Magdelaine Corinne

Abstract excerpt

We describe the clinical, electrodiagnostic, and genetic findings of three homozygous FIG4-c.122T>C patients suffering from Charcot-Marie-Tooth disease type 4J (AR-CMT-FIG4). This syndrome usually involves compound heterozygosity associating FIG4-c.122T>C, a hypomorphic allele coding an unstable FIG4-p.Ile41Thr protein, and a null allele. While the compound heterozygous patients presenting with early onset...

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 Demyelinating Diseases

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Flavoproteins

Share to Genetic Testing

Share to Homozygote

Share to Inheritance Patterns

Share to Intracellular Signaling Peptides and Proteins

Share to Phosphoric Monoester Hydrolases

Source

Open in PubMed Open full text

Identifiers

PMID: 33405357
DOI: 10.1002/acn3.51175
PMCID: PMC7886039

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Clinical features of homozygous FIG4-p.Ile41Thr Charcot-Marie-Tooth 4J patients.PMID 33405357Read ↗

Clinical and genetic features of patients suffering from CMT4J.Semantic proximity Read ↗

Distinctive genetic and clinical features of CMT4J: a severe neuropathy caused by mutations in the PI(3,5)P₂ phosphatase FIG4.Semantic proximity Read ↗

Recessive Charcot-Marie-tooth disease.Semantic proximity Read ↗

[113th Scientific Meeting of the Japanese Society of Internal Medicine: Educational Lecture: Genetic Diagnosis and Therapeutic Strategy for Charcot-Marie-Tooth Disease].Semantic proximity Read ↗

FIG4 mutations leading to parkinsonism and a phenotypical continuum between CMT4J and Yunis Varón syndrome.Semantic proximity Read ↗

136th ENMC International Workshop: Charcot–Marie–Tooth Disease Type 1A (CMT1A)8–10 April 2005, Naarden, The NetherlandsSemantic proximity Read ↗

Charcot-Marie-Tooth disease type 2 and P0 gene mutations.Semantic proximity Read ↗

Identification of a 5' splice site mutation in the PMP-22 gene in autosomal dominant Charcot-Marie-Tooth disease type 1.Semantic proximity Read ↗

Charcot-Marie-Tooth 1A: heterozygous T118M mutation over a CMT1A duplication has no influence on the phenotype.Semantic proximity Read ↗

A novel ATP2C1 early truncation mutation suggests haploinsufficiency as a pathogenic mechanism in a patient with Hailey-Hailey disease.Semantic proximity Read ↗

Charcot Marie Tooth disease 2F and a novel mutation from India.Semantic proximity Read ↗

Pathogenic mechanism of the FIG4 mutation responsible for Charcot-Marie-Tooth disease CMT4J.Semantic proximity Read ↗

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