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

CMT4D (NDRG1 mutation): genotype-phenotype correlations.

Journal of the peripheral nervous system : JPNS - 1 Sept 2013

Ricard Emilie, Mathis Stéphane, Magdelaine Corinne, Delisle Marie-Bernadette, Magy Laurent, Funalot Benoît, Vallat Jean-Michel

Abstract excerpt

Charcot-Marie-Tooth (CMT) disease is a heterogeneous condition with a large number of clinical, electrophysiological and pathological phenotypes. More than 40 genes are involved. We report a child of gypsy origin with an autosomal recessive demyelinating phenotype. Clinical data, familial history, and electrophysiological studies were in favor of a CMT4 sub-type. The characteristic N-Myc downstream-regulated...

Read the complete abstract on PubMed

Topics

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

Share to Cell Cycle Proteins
Share to Charcot-Marie-Tooth Disease

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Genotype

Share to Intracellular Signaling Peptides and Proteins

Share to Microscopy, Electron, Transmission

Share to Phenotype

Share to Sural Nerve

Source

Identifiers

PMID: 24028195
DOI: 10.1111/jns5.12039

Provenance

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.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

CMT4D (NDRG1 mutation): genotype-phenotype correlations.PMID 24028195Read ↗

NDRG1-linked Charcot-Marie-Tooth disease (CMT4D) with central nervous system involvement.Semantic proximity Read ↗

A novel NDRG1 mutation in a non-Romani patient with CMT4D/HMSN-Lom.Semantic proximity Read ↗

Mutation screening of the N-myc downstream-regulated gene 1 (NDRG1) in patients with Charcot-Marie-Tooth Disease.Semantic proximity Read ↗

A novel homozygous NDRG1 mutation in a Chinese patient with Charcot-Marie-Tooth disease 4D.Semantic proximity Read ↗

Mutations in GDAP1: autosomal recessive CMT with demyelination and axonopathy.Semantic proximity Read ↗

A novel GDAP1 mutation 439delA is associated with autosomal recessive CMT disease.Semantic proximity Read ↗

Genetics of the Charcot-Marie-Tooth disease in the Spanish Gypsy population: the hereditary motor and sensory neuropathy-Russe in depth.Semantic proximity Read ↗

An algorithm for genetic testing of Serbian patients with demyelinating Charcot-Marie-Tooth.Semantic proximity Read ↗

Clinical, electrophysiological and pathological findings in a patient with Charcot-Marie-Tooth disease 4D caused by the NDRG1 Lom mutation.Semantic proximity Read ↗

Variability of disease progression in a family with autosomal recessive CMT associated with a S194X and new R310Q mutation in the GDAP1 gene.Semantic proximity Read ↗

[Different phenotypes of Charcot-Marie-Tooth disease caused by mutations in the same gene. Are classical criteria for classification still valid?].Semantic proximity Read ↗

A splice altering variant in NDRG1 gene causes Charcot-Marie-Tooth disease, type 4D.Semantic proximity Read ↗

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