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

X-linked dominant Charcot-Marie-Tooth disease: nerve biopsies allow morphological evaluation and detection of connexin32 mutations (Arg15Trp, Arg22Gln).

Acta neuropathologica - 1 May 1998

Senderek J, Bergmann C, Quasthoff S, Ramaekers V T, Schröder J M

Abstract excerpt

X-linked Charcot-Marie-Tooth neuropathy (CMTX) is caused by mutations in the connexin32 gene on Xq13. Because of overlapping morphological and clinical data, CMTX patients often meet the criteria of autosomal-dominant CMT2, the neuronal type of CMT. Hence, it might be useful to analyse the connexin32 gene in suspected CMT2 patients when there is no male-to-male transmission. We selected a cohort of 30 patients...

Read the complete abstract on PubMed

Topics

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

Share to Adolescent
Share to DNA
Share to Genes, Dominant

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Genetic Linkage

Share to Mutation

Share to Polymerase Chain Reaction

Share to Polymorphism, Single-Stranded Conformational

Share to X Chromosome

Source

Identifiers

PMID: 9600589
DOI: 10.1007/s004010050823

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

X-linked dominant Charcot-Marie-Tooth disease: nerve biopsies allow morphological evaluation and detection of connexin32 mutations (Arg15Trp, Arg22Gln).PMID 9600589Read ↗

Charcot-Marie-Tooth disease: histopathological features of the peripheral myelin protein (PMP22) duplication (CMT1A) and connexin32 mutations (CMTX1).Semantic proximity Read ↗

X-linked Charcot-Marie-Tooth disease with connexin 32 mutations: clinical and electrophysiologic study.Semantic proximity Read ↗

X-linked dominant Charcot-Marie-Tooth neuropathy (CMTX): new mutations in the connexin32 gene.Semantic proximity Read ↗

X-linked dominant Charcot-Marie-Tooth neuropathy: clinical, electrophysiological, and morphological phenotype in four families with different connexin32 mutations(1).Semantic proximity Read ↗

Allelic variants in the 5' non-coding region of the connexin32 gene: possible pitfalls in the diagnosis of X linked Charcot-Marie-Tooth neuropathy (CMTX).Semantic proximity Read ↗

Charcot-Marie-Tooth disease with intermediate motor nerve conduction velocities: characterization of 14 Cx32 mutations in 35 families.Semantic proximity Read ↗

Charcot-Marie-Tooth type X: unusual phenotype of a novel CX32 mutation.Semantic proximity Read ↗

Connexin mutations in X-linked Charcot-Marie-Tooth disease.Semantic proximity Read ↗

Histopathological features of X-linked Charcot-Marie-Tooth disease in 8 patients from 6 families with different connexin32 mutations.Semantic proximity Read ↗

Efficient neurophysiologic selection of X-linked Charcot-Marie-Tooth familiesSemantic proximity Read ↗

A founder mutation in French-Canadian families with X-linked hereditary neuropathy.Semantic proximity Read ↗

Pathological findings in the x-linked form of Charcot-Marie-Tooth disease: a morphometric and ultrastructural analysis.Semantic proximity Read ↗

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