A previously undescribed leukodystrophy in Leigh syndrome associated with T9176C mutation of the mitochondrial ATPase 6 gene.

Abstract:

: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 diffuse white matter and the bilateral posterior limbs of the internal capsule. The m.9176T>C mutation is suggested as the cause of the bilateral striatal necrosis and Leigh syndrome. However, leukodystrophy in Leigh syndrome associated with m.9176T>C mutation has never been reported before. We suggest that m.9176T>C mutation could be a new aetiology for leukodystrophy in children with Leigh syndrome.

journal_name

Dev Med Child Neurol

authors

Hung PC,Wang HS

doi

10.1017/s0012162207000163.x

subject

Has Abstract

pub_date

2007-01-01 00:00:00

pages

65-7

issue

1

eissn

0012-1622

issn

1469-8749

pii

DMCN0163a

journal_volume

49

pub_type

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