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

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

Neuromuscular disorders : NMD - 1 May 2003

Azzedine H, Ruberg M, Ente D, Gilardeau C, Périé S, Wechsler B, Brice A, LeGuern E, Dubourg O

Abstract excerpt

Charcot-Marie-Tooth (CMT) with autosomal recessive (AR) inheritance is a heterogeneous group of inherited motor and sensory neuropathies. Six genes and five additional loci have been identified that are responsible for either demyelinating or axonal forms of the disease. The gene encoding the gan...

Read the complete abstract on PubMed

Topics

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

Share to Arginine
Share to Charcot-Marie-Tooth Disease
Share to Electrophysiology

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Family

Share to Genes, Recessive

Share to Glutamine

Share to Nerve Tissue Proteins

Share to Serine

Source

Identifiers

PMID: 12868504

Genes

GDAP1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-12868504-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Variability of disease progression in a family with autosomal recessive CMT associated with a S194X and new R310Q mutation in the GDAP1 gene.PMID 12868504Read ↗

Phenotypical features of a Moroccan family with autosomal recessive Charcot-Marie-Tooth disease associated with the S194X mutation in the GDAP1 gene.Semantic proximity Read ↗

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

Vocal cord and diaphragm paralysis, as clinical features of a French family with autosomal recessive Charcot-Marie-Tooth disease, associated with a new mutation in the GDAP1 gene.Semantic proximity Read ↗

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

Molecular genetics of autosomal-dominant demyelinating Charcot-Marie-Tooth disease.Semantic proximity Read ↗

[Autosomal recessive forms of Charcot-Marie-Tooth disease].Semantic proximity Read ↗

Genetic and clinical profile of 15 Chinese families with GDAP1-related Charcot-Marie-Tooth disease and identification of H256R as a frequent mutation.Semantic proximity Read ↗

Clinical, electrophysiological and morphological findings of Charcot-Marie-Tooth neuropathy with vocal cord palsy and mutations in the GDAP1 gene.Semantic proximity Read ↗

Autosomal recessive axonal form of Charcot-Marie-Tooth Disease caused by compound heterozygous 3'-splice site and Ser130Cys mutation in the GDAP1 gene.Semantic proximity Read ↗

GDAP1 mutations are frequent among Brazilian patients with autosomal recessive axonal Charcot-Marie-Tooth disease.Semantic proximity Read ↗

A novel GDAP1 mutation P78L responsible for CMT4A disease in three Moroccan families.Semantic proximity Read ↗

Identification of novel GDAP1 mutations causing autosomal recessive Charcot-Marie-Tooth disease.Semantic proximity Read ↗

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