Article
Mitochondrial protein associated neurodegeneration - case report.
Neurologia i neurochirurgia polska - 1 Jan 2000
Kłysz Bożena, Skowrońska Marta, Kmieć Tomasz
Abstract excerpt
Neurodegeneration with brain iron accumulation (NBIA) is a group of genetic disorders with a progressive extrapyramidal syndrome and excessive iron deposition in the brain, particularly in the globus pallidus and substantia nigra. We present the case of a 31-year-old woman with mitochondrial protein associated neurodegeneration (MPAN). MPAN is a new identified subtype of NBIA, caused by mutations in C19orf12...
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