Condition: NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 4
rs1204865094 in
C19orf12 gene and
NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 4
PMID 26187298 2015 Behr syndrome with homozygous C19ORF12 mutation.
PMID 22508347 2012 A new phenotype of brain iron accumulation with dystonia, optic atrophy, and peripheral neuropathy.
PMID 26136767 2015 Mutations of C19orf12, coding for a transmembrane glycine zipper containing mitochondrial protein, cause mis-localization of the protein, inability to respond to oxidative stress and increased mitochondrial Ca²⁺.
PMID 21981780 2011 Absence of an orphan mitochondrial protein, c19orf12, causes a distinct clinical subtype of neurodegeneration with brain iron accumulation.
PMID 23857908 2013 Hereditary spastic paraplegia type 43 (SPG43) is caused by mutation in C19orf12.
PMID 25592411 2015 Analysis of the C19orf12 and WDR45 genes in patients with neurodegeneration with brain iron accumulation.
PMID 22704260 2012 C19orf12 and FA2H mutations are rare in Italian patients with neurodegeneration with brain iron accumulation.
PMID 23278385 2013 Rapid disease progression in adult-onset mitochondrial membrane protein-associated neurodegeneration.
PMID 23269600 2013 New NBIA subtype: genetic, clinical, pathologic, and radiographic features of MPAN.
PMID 22584950 2012 C19orf12 mutations in neurodegeneration with brain iron accumulation mimicking juvenile amyotrophic lateral sclerosis.
PMID 23521069 2014 A novel frameshift mutation of C19ORF12 causes NBIA4 with cerebellar atrophy and manifests with severe peripheral motor axonal neuropathy.
PMID 23436634 2013 Mitochondrial membrane protein associated neurodegenration: a novel variant of neurodegeneration with brain iron accumulation.
PMID 24209434 2013 Mitochondrial membrane protein-associated neurodegeneration (MPAN).
PMID 28347615 2017 The p.Thr11Met mutation in c19orf12 is frequent among adult Turkish patients with MPAN.
PMID 23166001 2013 PANK2 and C19orf12 mutations are common causes of neurodegeneration with brain iron accumulation.
PMID 23494994 2013 Clinical features of neurodegeneration with brain iron accumulation due to a C19orf12 gene mutation.