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Clinical Genetics, ISSN 0009-9163, 04/2018, Volume 93, Issue 4, pp. 925 - 928
Carriers of the mitochondrial mutation m.3243A>G presents highly variable phenotypes including mitochondrial encephalomyopathy, lactoacidosis and stroke‐like... 
heteroplasmy | MELAS | m.3243A>G | mitochondria | DIAGNOSIS | MANAGEMENT | LEUKOCYTES | MITOCHONDRIAL-DNA HETEROPLASMY | GENETICS & HEREDITY | m.3243A > G | DEAFNESS | ENCEPHALOMYOPATHY | MTDNA MUTATION | BLOOD | Mortality | Genetic aspects | Mitochondria | Mutation | MELAS syndrome | Heteroplasmy
Journal Article
International Journal of Pediatric Otorhinolaryngology, ISSN 0165-5876, 2011, Volume 75, Issue 5, pp. 611 - 617
Abstract Objective The purpose of this study was to determine the prevalence of mutations in the GJB2 gene, the GJB6 -D13S1830 deletion and the four common... 
Otolaryngology | Pediatrics | mtDNA mutations | GJB2 | GJB6-D13S1830 | Molecular diagnosis | Non-syndromic hearing loss | South African population | MtDNA mutations | GAP-JUNCTION | MOLECULAR-GENETICS | SENSORINEURAL DEAFNESS | T7511C MUTATION | A1555G MUTATION | AMINOGLYCOSIDE OTOTOXICITY | OTORHINOLARYNGOLOGY | 12S RIBOSOMAL-RNA | NON-SYNDROMIC DEAFNESS | PEDIATRICS | AUTOSOMAL-RECESSIVE DEAFNESS | CARRIER FREQUENCY | Audiometry | Humans | Child, Preschool | Male | Hearing Loss, Sensorineural - epidemiology | Incidence | Young Adult | DNA, Mitochondrial - genetics | Gene Deletion | Polymerase Chain Reaction | Female | African Continental Ancestry Group - genetics | Genetic Predisposition to Disease - epidemiology | Child | Hearing Tests | Severity of Illness Index | Hearing Loss - physiopathology | Risk Assessment | Hearing Loss - epidemiology | Connexins - genetics | Hearing Loss, Sensorineural - genetics | Mutation - genetics | Connexin 26 | Hearing Loss - genetics | Mass Screening | Polymorphism, Restriction Fragment Length | Adolescent | Africa South of the Sahara - epidemiology | Cohort Studies | Hearing Loss, Sensorineural - physiopathology | Polymerase chain reaction | Deafness | GJB2 protein | Mitochondria | Restriction fragment length polymorphism | Mitochondrial DNA | Gene deletion | Single strand conformation polymorphism | Hearing loss | Index Medicus
Journal Article
Brain, ISSN 0006-8950, 2/2008, Volume 131, Issue 2, pp. 338 - 351
Mutations in OPA1, a dynamin-related GTPase involved in mitochondrial fusion, cristae organization and control of apoptosis, have been linked to non-syndromic... 
Chronic progressive external ophthalmoplegia | Dominant optic atrophy | Mitochondrial encephalomyopathy | Mitochondria | mtDNA multiple deletions | PROTEIN | mitochondria | NEUROSCIENCES | chronic progressive external ophthalmoplegia | R445H MUTATION | CLINICAL NEUROLOGY | mitochondrial encephalomyopathy | PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA | NEUROGASTROINTESTINAL ENCEPHALOMYOPATHY | HEARING-LOSS | GENE | DISEASE | dominant optic atrophy | DEAFNESS | FISSION | DELETIONS | Ophthalmoplegia, Chronic Progressive External - pathology | Humans | Middle Aged | Male | Tomography, X-Ray Computed | Mutation, Missense | DNA Mutational Analysis - methods | Ophthalmoplegia, Chronic Progressive External - genetics | DNA, Mitochondrial - genetics | Base Sequence | Muscle, Skeletal - chemistry | Adult | Female | Optic Atrophy, Autosomal Dominant - pathology | Child | Muscle, Skeletal - ultrastructure | Models, Molecular | Fibroblasts - pathology | Mitochondrial Myopathies - pathology | Syndrome | Magnetic Resonance Imaging | Point Mutation | Mitochondrial Myopathies - genetics | GTP Phosphohydrolases - genetics | Pedigree | Optic Atrophy, Autosomal Dominant - genetics | Aged | Index Medicus | Abridged Index Medicus | GTP Phosphohydrolases | Neurons and Cognition | DNA, Mitochondrial | Life Sciences | DNA Mutational Analysis | Fibroblasts | Optic Atrophy, Autosomal Dominant | Mitochondrial Myopathies | Ophthalmoplegia, Chronic Progressive External | Muscle, Skeletal
Journal Article
Proceedings of the National Academy of Sciences of the United States of America, ISSN 0027-8424, 8/2012, Volume 109, Issue 35, pp. 14087 - 14091
Journal Article
Journal Article