ArticleJournal of clinical neurology (Seoul, Korea)2007
A Family Harboring CMT1A Duplication and HNPP Deletion.
Article in Journal of clinical neurology (Seoul, Korea), 2007. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers.
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Who cites it
5 citing papers in PubMed, 9 citations in OpenAlex.
- Literature review of clinical analysis of hereditary neuropathy with liability to pressure palsies.Journal of neurology · 2024Review
- Neurological update: hereditary neuropathies.Journal of neurology · 2022Review
- Hidden hearing loss in patients with Charcot-Marie-Tooth disease type 1A.Scientific reports · 2018Article
- Myotonic dystrophy type I combined with X-linked dominant Charcot-Marie-Tooth neuropathy.Neurogenetics · 2010Article
- Charcot-Marie-Tooth 1A concurrent with schwannomas of the spinal cord and median nerve.Journal of Korean medical science · 2009Article
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Authors and funding
9 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Charcot-Marie-Tooth disease type 1A (CMT1A) is associated with duplication of chromosome 17p11.2-p12, whereas hereditary neuropathy with liability to pressure palsies (HNPP), which is an autosomal dominant neuropathy showing characteristics of recurrent pressure palsies, is associated with 17p11.2-p12 deletion. An altered gene dosage of PMP22 is believed to the main cause underlying the CMT1A and HNPP phenotypes. Although CMT1A and HNPP are associated with the same locus, there has been no report of these two mutations within a single family. We report a rare family harboring CMT1A duplication and HNPP deletion.
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Registered trials
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