| Article ID | Journal | Published Year | Pages | File Type |
|---|---|---|---|---|
| 3091044 | Seminars in Pediatric Neurology | 2008 | 4 Pages |
Abstract
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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Authors
Galen N. MD, John MD, Richard J. MD,