ArticleHuman genetics1994
Rapid screening of myelin genes in CMT1 patients by SSCP analysis: identification of new mutations and polymorphisms in the P0 gene.
Article in Human genetics, 1994. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 19 papers.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Who cites it
19 citing papers in PubMed, 98 citations in OpenAlex.
- Hereditary Polyneuropathies in the Era of Precision Medicine: Genetic Complexity and Emerging Strategies.Genes · 2026Review
- Myelin protein zero mutation-related hereditary neuropathies: Neuropathological insight from a new nerve biopsy cohort.Brain pathology (Zurich, Switzerland) · 2024Article
- Novel mutation in theThe Journal of international medical research · 2022Article
- Genetic and clinical spectrums in Korean Charcot-Marie-Tooth disease patients with myelin protein zero mutations.Molecular genetics & genomic medicine · 2021Article
- Impaired Mitochondrial Mobility in Charcot-Marie-Tooth Disease.Frontiers in cell and developmental biology · 2021Article
- U1 snRNA mis-binding: a new cause of CMT1B.Neurogenetics · 2010Article
- Clinical features and molecular modelling of novel MPZ mutations in demyelinating and axonal neuropathies.European journal of human genetics : EJHG · 2009Article
- Clinicopathological and virological analyses of familial human T-lymphotropic virus type I--associated polyneuropathy.Journal of neurovirology · 2005Article
- A novel mutation of myelin protein zero associated with an axonal form of Charcot-Marie-Tooth disease.Journal of neurology, neurosurgery, and psychiatry · 2004Article
- Article
- Dejerine-Sottas syndrome grown to maturity: overview of genetic and morphological heterogeneity and follow-up of 25 patients.Journal of anatomy · 2002Review
- Rapid functional analysis in Xenopus oocytes of Po protein adhesive interactions.Neurochemical research · 2001Article
- Steroid responsive polyneuropathy in a family with a novel myelin protein zero mutation.Journal of neurology, neurosurgery, and psychiatry · 2000Article
- Charcot-Marie-Tooth neuropathy type 2 and P0 point mutations: two novel amino acid substitutions (Asp61Gly; Tyr119Cys) and a possible "hotspot" on Thr124Met.Brain pathology (Zurich, Switzerland) · 2000Article
- Novel mutation in the myelin protein zero gene in a family with intermediate hereditary motor and sensory neuropathy.Journal of neurology, neurosurgery, and psychiatry · 1999Article
- Inherited neuropathies: from gene to disease.Brain pathology (Zurich, Switzerland) · 1999Review
- Mutation analysis of the nerve specific promoter of the peripheral myelin protein 22 gene in CMT1 disease and HNPP.Journal of medical genetics · 1998Article
- High frequency of mutations in codon 98 of the peripheral myelin protein P0 gene in 20 French CMT1 patients.American journal of human genetics · 1996Article
- Molecular genetic analysis of the 17p11.2 region in patients with hereditary neuropathy with liability to pressure palsies (HNPP).Human genetics · 1996Article
Corrections and comments
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Authors and funding
8 authors at 3 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Charcot-Marie-Tooth type 1 (CMT1) disease or hereditary motor and sensory neuropathy type I (HMSNI) is an autosomal dominant peripheral neuropathy. In most CMT1 families, the disease cosegregates with a 1.5-Mb duplication on chromosome 17p11.2 (CMT1A). A few patients have been found with mutations in the peripheral myelin protein 22 (PMP-22) gene located in the CMT1A region. In other families mutations have been identified in the major peripheral myelin protein P0 gene localized on chromosome 1q21-q23 (CMT1B). We performed a rapid mutation screening of the PMP-22 and P0 genes in non-duplicated CMT1 patients by single-strand conformation polymorphism analysis followed by direct polymerase chain reaction sequencing of genomic DNA. Six new single base changes in the P0 gene were observed: two missense mutations in, respectively, exons 2 and 3, two nonsense mutations in exon 4, and two silent mutations or polymorphisms in, respectively, exons 3 and 6.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.