## Abstract Neuroferritinopathy is a recently recognized autosomal dominant disorder that results in abnormal aggregates of iron and ferritin in the brain due to a mutation in the ferritin light chain gene on chromosome 19q13.3. We present the clinical details of a patient with adultβonset generali
A heteroplasmic mitochondrial complex I gene mutation in adult-onset dystonia
β Scribed by David K. Simon; Jennifer Friedman; Xandra O. Breakefield; Joseph Jankovic; Mitchell F. Brin; John Provias; Susan B. Bressman; Michael E. Charness; Daniel Tarsy; Donald R. Johns; Mark A. Tarnopolsky
- Book ID
- 106257039
- Publisher
- Springer
- Year
- 2003
- Tongue
- English
- Weight
- 155 KB
- Volume
- 4
- Category
- Article
- ISSN
- 1364-6745
No coin nor oath required. For personal study only.
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Nothing to disclose. Author Roles: Mohammed T. Ahmad was involved in the writing of the first draft, patient assessment, followup, and video filming. Kumar M. Prakash was involved in review and critique, writing of the final draft, patient and video assessment, and video editing.
## Abstract Defects in NADH:ubiquinone oxidoreductase (complex I), the largest complex of the mitochondrial respiratory chain, account for most cases of respiratory chain deficiency in human. Complex I contains at least 45 subunits, 7 of which are encoded by mitochondrial DNA (mtDNA). Here we repor