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Mitochondrial DNA 11777C>A Mutation Associated Leigh Syndrome: Case Report with a Review of the Previously Described Pedigrees

✍ Scribed by Kinga Hadzsiev; Anita Maasz; Peter Kisfali; Endre Kalman; Eva Gomori; Endre Pal; Ervin Berenyi; Katalin Komlosi; Bela Melegh


Book ID
107568661
Publisher
Humana Press Inc
Year
2010
Tongue
English
Weight
498 KB
Volume
12
Category
Article
ISSN
1535-1084

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We report two male Taiwanese siblings in whom the T→C point mutation at nucleotide 9176 of the mitochondrial ATPase 6 gene (m.9176T>C mutation) was associated with early onset hypotonia, lactic acidosis, and death due to respiratory arrest at 7 and 10 months old. Brain MRI showed lesions over diffus