期刊
SEMINARS IN PEDIATRIC NEUROLOGY
卷 15, 期 4, 页码 212-215出版社
W B SAUNDERS CO-ELSEVIER INC
DOI: 10.1016/j.spen.2008.10.013
关键词
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资金
- Foundation of Molecular Medicine
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. Semin Pediatr Neurol 15:212-215 (C) 2008 Elsevier Inc. All rights reserved.
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