Article
Rapid disease progression in adult-onset mitochondrial membrane protein-associated neurodegeneration.
Clinical genetics - 1 Oct 2013
Dogu O, Krebs C E, Kaleagasi H, Demirtas Z, Oksuz N, Walker R H, Paisán-Ruiz C
Abstract excerpt
Neurodegeneration with brain iron accumulation (NBIA) comprises a clinically and genetically heterogeneous group of neurodegenerative diseases characterized by progressive degeneration of the central nervous system and high basal ganglia iron deposition. The list of identified causative genes for NBIA syndromes continues to expand and includes one autosomal dominant, one X-linked, and a number of recessive forms....
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