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Illness-induced exacerbation of Leigh syndrome in a patient with the MTATP6 mutation, m. 9185 T>C

✍ Scribed by Russell P. Saneto; Keshav K. Singh


Book ID
116752084
Publisher
Elsevier Science
Year
2010
Tongue
English
Weight
896 KB
Volume
10
Category
Article
ISSN
1567-7249

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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