pathogenic mutation in C19ORF12 gene (exon2 c.2327C>T p.P776L) was identified from the patients according to the American College of Medical Genetics and Genomics (ACMG) guideline
Brain iron and metabolic abnormalities in C19orf12 mutation carriers: A 7.0 tesla MRI study in mitochondrial membrane protein-associated neurodegeneration.
Data indicate two novel homozygous mutations (one frameshift and one missense mutation) detected in CYP7B1 (SPG5A) while no disease-causing mutation was identified for PNPLA6 (SPG39) and C19orf12 (SPG43).
Mutations in PANK2 and CoASY lead respectively to PKAN and CoPAN forms of Neurodegeneration with brain iron accumulation . Mutations in PLA2G6 lead to PLAN. Mutations in C19orf12 lead to MPAN
Mutations in the c19orf12 gene encoding a mitochondrial protein of unknown function were identified in patients suffering from Neurodegeneration with brain iron accumulation.
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