The 13042G→A/ND5 mutation in mtDNA is pathogenic and can be associated also with a prevalent ocular phenotype

BACKGROUND: Overlapping phenotypes including LHON, MELAS, and Leigh syndrome have recently been associated with numerous mtDNA point mutations in the ND5 gene of complex I, now considered a mutational hot spot. OBJECTIVE: To identify the mtDNA defect in a family with a prevalent ocular phenotype, in...

Πλήρης περιγραφή

Αποθηκεύτηκε σε:
Λεπτομέρειες βιβλιογραφικής εγγραφής
Κύριοι συγγραφείς: Valentino, M L, Barboni, P, Rengo, C, Achilli, A, Torroni, A, Lodi, R, Tonon, C, Barbiroli, B, Fortuna, F, Montagna, P, Baruzzi, A, Carelli, V
Μορφή: Artigo
Γλώσσα:Inglês
Έκδοση: BMJ Group 2006
Θέματα:
Online Mutation Report
Διαθέσιμο Online:https://ncbi.nlm.nih.gov/pmc/articles/PMC2564567/
https://ncbi.nlm.nih.gov/pubmed/16816025
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/jmg.2005.037507
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