Absence of an Orphan Mitochondrial Protein, C19orf12, Causes a Distinct Clinical Subtype of Neurodegeneration with Brain Iron Accumulation
✍ Scribed by Monika B. Hartig; Arcangela Iuso; Tobias Haack; Tomasz Kmiec; Elzbieta Jurkiewicz; Katharina Heim; Sigrun Roeber; Victoria Tarabin; Sabrina Dusi; Malgorzata Krajewska-Walasek; Sergiusz Jozwiak; Maja Hempel; Juliane Winkelmann; Matthias Elstner; Konrad Oexle; Thomas Klopstock; Wolfgang Mueller-Felber; Thomas Gasser; Claudia Trenkwalder; Valeria Tiranti; Hans Kretzschmar; Gerd Schmitz; Tim M. Strom; Thomas Meitinger; Holger Prokisch
- Book ID
- 113423109
- Publisher
- American Society of Human Genetics
- Year
- 2011
- Tongue
- English
- Weight
- 899 KB
- Volume
- 89
- Category
- Article
- ISSN
- 0002-9297
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## Abstract In recent years, understanding of the syndromes of neurodegeneration with brain iron accumulation (NBIA) has grown considerably. In addition to the core syndromes of pantothenate kinsase–associated neurodegeneration (PKAN, NBIA1) and PLA2G6‐associated neurodegeneration (PLAN, NBIA2), se