| Literature DB >> 19073330 |
Galen N Breningstall1, John Shoffner, Richard J Patterson.
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.Entities:
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Year: 2008 PMID： 19073330 DOI： 10.1016/j.spen.2008.10.013
Source DB: PubMed Journal: Semin Pediatr Neurol ISSN： 1071-9091 Impact factor: 1.636