A Novel Deletion Mutation of Exon 2 of the C19orf12 Gene in an Omani Family with Mitochondrial Membrane Protein-Associated Neurodegeneration (MPAN)
Mutations in the C19orf12 gene are known to cause mitochondrial membrane protein-associated neurodegeneration (MPAN), which is a neurodegeneration with brain iron accumulation (NBIA) type 4 disorder. To the best of our knowledge, this is the first report of a genetically confirmed case of MPAN from...
Main Authors: | Nabil Al Macki, Ismail Al Rashdi |
---|---|
Format: | Article |
Language: | English |
Published: |
Oman Medical Specialty Board
2017-01-01
|
Series: | Oman Medical Journal |
Subjects: | |
Online Access: | http://omjournal.org/articleDetails.aspx?coType=1&aId=1862 |
Similar Items
-
Identification of Autophagy as a Functional Target Suitable for the Pharmacological Treatment of Mitochondrial Membrane Protein-Associated Neurodegeneration (MPAN) In Vitro
by: Enrica Zanuttigh, et al.
Published: (2023-01-01) -
A novel C19ORF12 mutation in two MPAN sisters treated with deferiprone
by: Sihui Chen, et al.
Published: (2023-03-01) -
Cerebral Iron Deposition in Neurodegeneration
by: Petr Dusek, et al.
Published: (2022-05-01) -
Botulinum Toxin-A Injection in the Treatment of Spasticity in a Infantile-Onset Neurodegeneration With Brain Iron Accumulation: A Case Report
by: Hwan Kwon Do, et al.
Published: (2018-04-01) -
Juvenile-onset Mitochondrial-membrane Protein-associated Neurodegeneration with Late Diagnosis
by: Romana Perkovic, et al.
Published: (2022-06-01)