Article
Siblings with leukoencephalopathy.
Seminars in pediatric neurology - 1 Dec 2008
Breningstall Galen N, Shoffner John, Patterson Richard J
Abstract excerpt
Two consanguineous siblings presented with developmental regression and emerging spasticity. Cranial magnetic resonance imaging in both showed diffuse leukoencephalopathy. Further investigation established the siblings as having complex 1 deficiency consequent to a novel homozygous mutation in NDUFV1, a nuclear-encoded subunit of complex 1. Diffuse leukoencephalopathy may be a presentation of complex 1 deficiency.
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