Authors

Nabil Al Macki

Publications 2

Research article Open access

A Novel Deletion Mutation of Exon 2 of the C19orf12 Gene in an Omani Family with Mitochondrial Membrane Protein-Associated Neurodegeneration (MPAN)

Nabil Al Macki, Ismail Al Rashdi · Oman Medical Journal · 2017 · 10.5001/omj.2017.12

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 Oman. A novel homozy …

Research article Open access

Late Onset Central Hypoventilation Syndrome due to a Heterozygous Polyalanine Repeat Expansion Mutation in the PHOX2B Gene

Ismail Al Rashdi, Mohammed Al Ghafri, Said Al Hanshi et al. · Oman Medical Journal · 2011 · 10.5001/omj.2011.87

This report describes a 6 year old girl with late onset central hypoventilation syndrome due to a heterozygous polyalanine repeat expansion mutation in the PHOX2B gene. This report aims to increase the awareness of this condition among physicians to allow earlier clinical and genetic diagnosis and management of cases o …

Co-authors