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

A novel PMP22 mutation Ser22Phe in a family with hereditary neuropathy with liability to pressure palsies and CMT1A phenotypes.

Neurogenetics - 1 Sept 2004

Kleopa Kleopas A, Georgiou Domna-Maria, Nicolaou Paschalis, Koutsou Pantelitsa, Papathanasiou Eleftherios, Kyriakides Theodoros, Christodoulou Kyproula

Abstract excerpt

We describe a Cypriot family in which some family members presented with episodes of pressure palsies, while other family members had a slowly progressive chronic polyneuropathy typical of the Charcot-Marie-Tooth type 1 phenotype. All family members were evaluated clinically, with nerve conduction studies, and with genetic testing. In all affected individuals there was clinical and electrophysiological evidence...

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 Electrophysiology

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Family Health

Share to Myelin Proteins

Share to Neurons

Share to Peripheral Nervous System Diseases

Share to Phenylalanine

Share to Serine

Source

Identifiers

PMID: 15205993
DOI: 10.1007/s10048-004-0184-1

Genes

PMP22

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

A novel PMP22 mutation Ser22Phe in a family with hereditary neuropathy with liability to pressure palsies and CMT1A phenotypes.PMID 15205993Read ↗

Variable phenotypes are associated with PMP22 missense mutations.Semantic proximity Read ↗

PMP22 related neuropathies: Charcot-Marie-Tooth disease type 1A and Hereditary Neuropathy with liability to Pressure Palsies.Semantic proximity Read ↗

Characterization of a Portuguese family with Charcot-Marie-Tooth disease type 1E due to a novel point mutation in the PMP22 gene.Semantic proximity Read ↗

Mutation analysis of PMP22 in Slovak patients with Charcot-Marie-Tooth disease and hereditary neuropathy with liability to pressure palsies.Semantic proximity Read ↗

A New Point Mutation in the PMP22 Gene in a Family Suffering From Atypical HNPP.Semantic proximity Read ↗

A family with a novel frameshift mutation in the PMP22 gene (c.433_434insC) causing a phenotype of hereditary neuropathy with liability to pressure palsies.Semantic proximity Read ↗

Hereditary neuropathy with liability to pressure palsy (HNPP): report of a family with a new point mutation in PMP22 gene.Semantic proximity Read ↗

Inherited neuropathies: Charcot-Marie-Tooth disease and related disorders.Semantic proximity Read ↗

The phenotype of the Gly94fsX222 PMP22 insertion.Semantic proximity Read ↗

A novel point mutation in PMP22 gene associated with a familial case of Charcot-Marie-Tooth disease type 1A with sensorineural deafness.Semantic proximity Read ↗

A newly identified Thr99fsX110 mutation in the PMP22 gene associated with an atypical phenotype of the hereditary neuropathy with liability to pressure palsies.Semantic proximity Read ↗

Overlap phenotype between CMT1A and hereditary neuropathy with liability to pressure palsies caused by the novel small in-frame deletion c.407_418del12 in PMP22 gene.Semantic proximity Read ↗

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