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

Mutations in the pleckstrin homology domain of dynamin 2 cause dominant intermediate Charcot-Marie-Tooth disease.

Nature genetics - 1 Mar 2005

Züchner Stephan, Noureddine Maher, Kennerson Marina, Verhoeven Kristien, Claeys Kristl, De Jonghe Peter, Merory John, Oliveira Sofia A, Speer Marcy C, Stenger Judith E, Walizada Gina, Zhu Danqing, Pericak-Vance Margaret A, Nicholson Garth, Timmerman Vincent, Vance Jeffery M

Abstract excerpt

Charcot-Marie-Tooth (CMT) disease is a clinically and genetically heterogeneous group of peripheral neuropathies. Different chromosomal loci have been linked with three autosomal dominant, 'intermediate' types of CMT: DI-CMTA, DI-CMTB and DI-CMTC. We refined the locus associated with DI-CMTB on chromosome 19p12-13.2 to 4.2 Mb in three unrelated families with CMT originating from Australia, Belgium and North...

Read the complete abstract on PubMed

Topics

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

Share to Blood Proteins
Share to Blotting, Western

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Charcot-Marie-Tooth Disease

Share to Cloning, Molecular

Share to DNA, Complementary

Share to Dynamin II

Share to Genes, Dominant

Share to Phosphoproteins

Source

Identifiers

PMID: 15731758
DOI: 10.1038/ng1514

Genes

DNM2

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

Mutations in the pleckstrin homology domain of dynamin 2 cause dominant intermediate Charcot-Marie-Tooth disease.PMID 15731758Read ↗

A novel mutation in the dynamin 2 gene in a Charcot-Marie-Tooth type 2 patient: clinical and pathological findings.Semantic proximity Read ↗

Phenotypic variability in a large Czech family with a dynamin 2-associated Charcot-Marie-Tooth neuropathy.Semantic proximity Read ↗

Two novel mutations in dynamin-2 cause axonal Charcot-Marie-Tooth disease.Semantic proximity Read ↗

Mutation spectrum in the large GTPase dynamin 2, and genotype-phenotype correlation in autosomal dominant centronuclear myopathy.Semantic proximity Read ↗

Adult-onset autosomal dominant spastic paraplegia linked to a GTPase-effector domain mutation of dynamin 2.Semantic proximity Read ↗

Dynamin 2 mutations associated with human diseases impair clathrin-mediated receptor endocytosis.Semantic proximity Read ↗

Expression of a dynamin 2 mutant associated with Charcot-Marie-Tooth disease leads to aberrant actin dynamics and lamellipodia formation.Semantic proximity Read ↗

A mutation associated with Charcot-Marie-Tooth disease enhances the formation of stable dynamin 2 complexes in cellsSemantic proximity Read ↗

Intermediate Charcot-Marie-Tooth disease.Semantic proximity Read ↗

Exome sequencing identifies GNB4 mutations as a cause of dominant intermediate Charcot-Marie-Tooth disease.Semantic proximity Read ↗

Phenotypic spectrum of dynamin 2 mutations in Charcot-Marie-Tooth neuropathy.Semantic proximity Read ↗

Intermediate forms of Charcot-Marie-Tooth neuropathy: a review.Semantic proximity Read ↗

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