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

Dejerine-Sottas neuropathy in mother and son with same point mutation of PMP22 gene.

Muscle & nerve - 1 Jan 1997

Ionasescu V V, Searby C C, Ionasescu R, Chatkupt S, Patel N, Koenigsberger R

Abstract excerpt

We studied a 25-year-old black woman with healthy parents and her 2-year, 11-month-old son. Her motor development was delayed and she started to walk with support when she was 6 years old. She never walked independently and had always used a wheelchair. Neurological evaluation showed severe weakness and atrophy of her feet, legs, and hands, bilateral pes cavus and hammertoes, corrected scoliosis, hypesthesia for...

Read the complete abstract on PubMed

Topics

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

Share to PMP22 gene
Share to Hereditary Sensory and Motor Neuropathy

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Mutation

Share to Myelin Proteins

Share to Pedigree

Source

Identifiers

PMID: 8995589
DOI: 10.1002/(sici)1097-4598(199701)20:1<97::aid-mus13>3.0.co;2-z

Genes

PMP22

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

Dejerine-Sottas neuropathy in mother and son with same point mutation of PMP22 gene.PMID 8995589Read ↗

Déjérine-Sottas neuropathy associated with de novo S79P mutation of the peripheral myelin protein 22 (PMP22) gene.Semantic proximity Read ↗

Déjérine-Sottas neuropathy is associated with a de novo PMP22 mutation.Semantic proximity Read ↗

Dejerine-Sottas' neuropathy caused by the missense mutation PMP22 Ser72Leu.Semantic proximity Read ↗

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

Dejerine-Sottas disease and hereditary demyelinating polyneuropathy of infancy.Semantic proximity Read ↗

Expanding the phenotypic spectrum of Dejerine-Sottas syndrome caused by the trembler mutation.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 ↗

PMP22 Gene-Associated Neuropathies: Phenotypic Spectrum in a Cohort from India.Semantic proximity Read ↗

Four novel point mutations in the PMP22 gene with phenotypes of HNPP and Dejerine-Sottas neuropathy.Semantic proximity Read ↗

[Peroneal myoatrophy type 4H FGD4 new gene mutation in one case and literature review].Semantic proximity Read ↗

Clinical, electrophysiological and magnetic resonance findings in a family with hereditary neuropathy with liability to pressure palsies caused by a novel PMP22 mutation.Semantic proximity Read ↗

[Genetics and pathophysiology of hereditary motor and sensory neuropathy type 1].Semantic proximity Read ↗

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