A Family Harboring CMT1A Duplication and HNPP Deletion

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-p...

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Detalles Bibliográficos
Autores principales: Lee, Jung Hwa, Kang, Hee Jin, Song, Hyunseok, Hwang, Su Jin, Cho, Sun-Young, Kim, Sang-Beom, Kim, Joonki, Chung, Ki Wha, Choi, Byung-Ok
Formato: Texto
Lenguaje:English
Publicado: Korean Neurological Association 2007
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2686856/
https://www.ncbi.nlm.nih.gov/pubmed/19513300
http://dx.doi.org/10.3988/jcn.2007.3.2.101

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2686856/
https://www.ncbi.nlm.nih.gov/pubmed/19513300
http://dx.doi.org/10.3988/jcn.2007.3.2.101

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