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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