ArticleJournal of neurology, neurosurgery, and psychiatry2006
An abnormal mRNA produced by a novel PMP22 splice site mutation associated with HNPP.
Article in Journal of neurology, neurosurgery, and psychiatry, 2006. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 8 papers.
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Who cites it
8 citing papers in PubMed, 18 citations in OpenAlex.
- Advances in PMP22 sequence variant-associated hereditary neuropathy with liability to pressure palsies: from gene dosage effects to mechanism-informed variant interpretation.Frontiers in neurology · 2026Review
- Literature review of clinical analysis of hereditary neuropathy with liability to pressure palsies.Journal of neurology · 2024Review
- Clinical and molecular genetic characteristics of 24 families of hereditary neuropathy with liability to pressure palsy and literature review.Zhong nan da xue xue bao. Yi xue ban = Journal of Central South University. Medical sciences · 2023Review
- Rare PMP22 variants in mild to severe neuropathy uncorrelated to plasma GDF15 or neurofilament light.Neurogenetics · 2023Article
- New evidence for secondary axonal degeneration in demyelinating neuropathies.Neuroscience letters · 2021Review
- Hereditary neuropathy with liability to pressure palsy (HNPP): report of a family with a new point mutation in PMP22 gene.Italian journal of pediatrics · 2017Article
- Genetic polymorphisms involved in dopaminergic neurotransmission and risk for Parkinson's disease in a Japanese population.BMC neurology · 2011Article
- Identification of Alu elements mediating a partial PMP22 deletion.Neurogenetics · 2006Article
Corrections and comments
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Authors and funding
8 authors at 1 institution in 1 country.
Funding
Abstract
Hereditary neuropathy with liability to pressure palsies (HNPP) is an autosomal dominant, demyelinating neuropathy. Point mutations in the PMP22 gene are a rare cause of HNPP. A novel PMP22 splice site mutation (c.179+1 G-->C) is reported in an HNPP family. By reverse transcriptase-polymerase chain reaction experiments, this mutation was shown to cause the synthesis of an abnormal mRNA in which a premature stop codon probably produces a truncated non-functional protein.
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Registered trials
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.