Erratum: A frame shift mutation in the PMP22 gene in hereditary neuropathy with liability to pressure palsies
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منابع مشابه
Erratum to “Partial Gene Deletions of PMP22 Causing Hereditary Neuropathy with Liability to Pressure Palsies”
[This corrects the article DOI: 10.1155/2014/946010.].
متن کاملPoint Mutation Analysis of PMP22 in Patients Referred for Hereditary Neuropathy with Liability to Pressure Palsies
A cohort of 404 patients referred for hereditary neuropathy with liability to pressure palsies was tested initially for the common PMP22 whole gene deletion. 94 whole gene deletions were detected, plus three partial gene deletions, and the remaining 307 patients were screened for PMP22 point mutations. Nine point mutations were identified (8.5% of all mutations), eight of which were in exon 5, ...
متن کاملHereditary neuropathy with liability to pressure palsies. Phenotypic differences between patients with the common deletion and a PMP22 frame shift mutation.
In six families with hereditary neuropathy with liability to pressure palsies (HNPP) the 17p11.2 deletion was absent, but single strand conformation-analysis and subsequent sequencing demonstrated a heterozygous G-insertion in a stretch of six Gs at nt 276281 of the PMP22 gene, resulting in a frame shift after Gly94. Haplotype comparison of the six families revealed common ancestry. We compared...
متن کاملSwallowing dysfunction in hereditary neuropathy with liability to pressure palsies.
Dra. Rosana Herminia Scola – Serviço de Doenças Neuromusculares / Hospital de Clínicas da UFPR – Rua General Carneiro 181 / 3o andar 80060-900 Curitiba PR – Brasil. E-mail: [email protected] Hereditary neuropathy with liability to pressure palsies (HNPP) is an autosomal dominant peripheral neuropathy characterized by recurrent episodes of paralysis of peripheral nerves, usually after a minor tra...
متن کاملUnusual presentation of hereditary neuropathy with liability to pressure palsies
BACKGROUND Hereditary neuropathy with liability to pressure palsies (HNPP) is an autosomal-dominant painless peripheral neuropathy characterized by episodes of repeated focal pressure neuropathies at sites of entrapment/compression, with a considerable variability in the clinical course. Electrodiagnostic and genetic testing are important in the diagnostic evaluation of these patients. CASE P...
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ژورنال
عنوان ژورنال: Nature Genetics
سال: 1994
ISSN: 1061-4036,1546-1718
DOI: 10.1038/ng0594-113c