The 9-bp deletion in region V of mtDNA: a risk factor of hearing loss and encephalomyopathy in Caucasian populations?-Reference-Cited by-同舟云学术

The 9-bp deletion in region V of mtDNA: a risk factor of hearing loss and encephalomyopathy in Caucasian populations?

Published:2013-01-25 Issue:7 Volume:34 Page:1223-1226
ISSN:1590-1874
Container-title:Neurological Sciences
language:en
Short-container-title:Neurol Sci

Author:

Borgione Eugenia,Lo Giudice Mariangela,Castello Filippa,Musumeci Sebastiano A.,Di Blasi Francesco D.,Savio Maria,Elia Maurizio,Rizzo Biagio,Barbarino Giuliano,Romano Salvatore,Calabrese Giuseppe,Di Benedetto Daniela,Scuderi Carmela

Publisher

Springer Science and Business Media LLC

Subject

Psychiatry and Mental health,Clinical Neurology,Dermatology,General Medicine

Link

http://link.springer.com/content/pdf/10.1007/s10072-013-1297-9.pdf

Reference21 articles.

1. Morton CC, Nance WE (2006) Newborn hearing screening—a silent revolution. N Engl J Med 354:2151–2164

2. Sakihara Y, Christensen B, Parving A (1999) Prevalence of hereditary hearing impairment in adults. Scand Audiol 28:39–46

3. Denoyelle F, Marlin S, Weil D, Moatti L, Chauvin P, Garabèdian EN et al (1999) Clinical features of the prevalent form of childhood deafness, DFNB1, due to a connexin-26 gene defect: implications for genetic counselling. Lancet 353:1298–1303

4. Pandya A, Arnos KS, Xia XJ, Welch KO, Blanton SH, Friedman TB et al (2003) Frequency and distribution of GJB2 (connexin 26) and GJB6 (connexin 30) mutations in a large North American repository of deaf probands. Genet Med 5:295–303

5. Jacobs HT, Hutchin TP, Kappi T, Gillies G, Minkkinen K, Walker J et al (2005) Mitochondrial DNA mutations in patients with postlingual, nonsyndromic hearing impairment. Eur J Hum Genet 13:26–33

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