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Article

Clinical and pathological phenotype of the original family with Charcot-Marie-Tooth type 1B: a 20-year study.

Annals of neurology - 1 Apr 1997

Bird T D, Kraft G H, Lipe H P, Kenney K L, Sumi S M

Abstract excerpt

Charcot-Marie-Tooth type 1B is an uncommon form of hereditary motor and sensory neuropathy caused by mutations in the P(0) myelin protein gene on chromosome 1. We report here a 20-year observation of 13 members of the first family with Charcot-Marie-Tooth disease to demonstrate linkage to chromos...

Topics

Adolescent
Adult
Aged
Aged, 80 and over
Axons
Biopsy
Charcot-Marie-Tooth Disease
Child
Child, Preschool
Chromosomes, Human, Pair 1
Female
Fibrosis
Humans

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Male

Microscopy, Electron

Middle Aged

Myelin Proteins

Neural Conduction

Source

Identifiers

PMID: 9124803
DOI: 10.1002/ana.410410409

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026. Prepared record publication-9124803-2026-08-30.1. Manifest publication-graph-cohort-2026-08-30.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 30 Aug 2026.

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Clinical and pathological phenotype of the original family with Charcot-Marie-Tooth type 1B: a 20-year study.PMID 9124803Read ↗

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