C19orf12 gene mutations in patients with neurodegeneration with brain iron accumulation
M Gagliardi, G Annesi, G Lesca, E Broussolle… - Parkinsonism & Related …, 2015 - Elsevier
Parkinsonism & Related Disorders, 2015•Elsevier
A novel subtype of Neurodegeneration with Brain Iron Accumulation (NBIA) recently has
been described: mitochondrial membrane protein-associated neurodegeneration (MPAN),
caused by mutations of c19orf12 gene. We present phenotypic data and results of screening
of C19orf12 in five unrelated NBIA families. Our data led to identify novel pathogenic
mutations in C19orf12.
been described: mitochondrial membrane protein-associated neurodegeneration (MPAN),
caused by mutations of c19orf12 gene. We present phenotypic data and results of screening
of C19orf12 in five unrelated NBIA families. Our data led to identify novel pathogenic
mutations in C19orf12.
Abstract
A novel subtype of Neurodegeneration with Brain Iron Accumulation (NBIA) recently has been described: mitochondrial membrane protein-associated neurodegeneration (MPAN), caused by mutations of c19orf12 gene. We present phenotypic data and results of screening of C19orf12 in five unrelated NBIA families. Our data led to identify novel pathogenic mutations in C19orf12.
Elsevier
以上显示的是最相近的搜索结果。 查看全部搜索结果