Hearing loss caused by a P2RX2 mutation identified in a MELAS family with a coexisting mitochondrial 3243AG mutation

OBJECTIVE: We present a family with a mitochondrial DNA 3243A>G mutation resulting in MELAS, of which some members have hearing loss where a novel mutation in the P2RX2 gene was identified. METHODS: One hundred ninety-four (194) Japanese subjects from unrelated families were enrolled in the study...

Full beskrivning

Sparad:
Bibliografiska uppgifter
I publikationen:Ann Otol Rhinol Laryngol
Huvudupphovsmän: Moteki, Hideaki, Azaiez, Hela, Booth, Kevin T, Hattori, Mitsuru, Sato, Ai, Sato, Yoshihiko, Motobayashi, Mitsuo, Sloan, Christina M, Kolbe, Diana L, Shearer, A Eliot, Smith, Richard J H, Usami, Shin-ichi
Materialtyp: Artigo
Språk:Inglês
Publicerad: 2015
Ämnen:
Article
Länkar:https://ncbi.nlm.nih.gov/pmc/articles/PMC4441871/
https://ncbi.nlm.nih.gov/pubmed/25788561
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1177/0003489415575045
Taggar: Lägg till en tagg
Inga taggar, Lägg till första taggen!

Liknande verk