TY - GEN AU - Shamseldin,Hanan E AU - Alshammari,Muneera AU - Al-Sheddi,Tarfa AU - Salih,Mustafa A AU - Alkhalidi,Hisham AU - Kentab,Amal AU - Repetto,Gabriela M AU - Hashem,Mais AU - Alkuraya,Fowzan S TI - Genomic analysis of mitochondrial diseases in a consanguineous population reveals novel candidate disease genes SN - 1468-6244 PY - 2012///0810 KW - Brain KW - pathology KW - Consanguinity KW - Exome KW - Female KW - Genomics KW - Genotype KW - Humans KW - Male KW - Membrane Proteins KW - genetics KW - Mitochondria KW - Mitochondrial Diseases KW - diagnosis KW - Mitochondrial Encephalomyopathies KW - Mitochondrial Proteins KW - Mutation KW - Pedigree KW - Phenotype KW - Sequence Analysis, DNA N1 - Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't UR - https://doi.org/10.1136/jmedgenet-2012-100836 ER -