In mitochondrial research, many investigators have examined the association between mitochondrial DNA (mtDNA) variants in rare as well as common complex diseases. Previous studies at the CHM (NWU) detected three known pathogenic mtDNA variants (m.7497G>A, m.9185T>C and m.10197G>A) at low allele frequencies in a number of patients diagnosed with myalgic encephalomyelitis (ME). Since no diagnostic examinations or conclusive treatments currently exist for ME, an association between ME and known pathogenic variants, or a cumulative effect of rare non-synonymous variants (pathogenicity score) on ME, could provide valuable insights into understanding the causes of ME. Literature shows contradicting data regarding the role of mitochondrial dysfunc...
Mitochondrial diseases are a heterogeneous group of rare genetic disorders that can be caused by mut...
Background Mitochondrial Diseases (MDs) are a diverse group of neurometabolic disorders characterize...
A broad spectrum of rare disease presentations can now be investigated by analysing mitochondrial DN...
AbstractThis study examines the relationship of genotype to phenotype in 14 unselected patients who ...
Pathogenic mutations in mitochondrial DNA (mtDNA) are recognised as an important cause of disease, a...
Mitochondrial encephalomyopathies are a heterogeneous group of clinical disorders generally caused d...
We studied 22 subjects carrying the A3243G point mutation of human mitochondrial DNA (mtDNA). In 14 ...
Abstract Background: Mitochondrial diseases present with variable multi-organ symptoms. Common disea...
Monogenic forms of cerebral small vessel disease (CSVD) can be caused by both variants in nuclear DN...
The purpose of this study was to identify novel mitochondrial deoxyribonucleic acid (mtDNA) mutation...
Myalgic Encephalomyelitis (ME), also known as Chronic Fatigue Syndrome (CFS) is a debilitating condi...
mtDNA is transmitted through the maternal line and its sequence variability, which is population spe...
Abstract: Mitochondrial diseases are highly heterogeneous metabolic disorders caused by genetic alte...
Mitochondria are complex organelles, which are involved in various important metabolic pathways. Due...
MELAS, MERRF, LHON and NARP, are well-established mitochondrial syndromes associated with specific p...
Mitochondrial diseases are a heterogeneous group of rare genetic disorders that can be caused by mut...
Background Mitochondrial Diseases (MDs) are a diverse group of neurometabolic disorders characterize...
A broad spectrum of rare disease presentations can now be investigated by analysing mitochondrial DN...
AbstractThis study examines the relationship of genotype to phenotype in 14 unselected patients who ...
Pathogenic mutations in mitochondrial DNA (mtDNA) are recognised as an important cause of disease, a...
Mitochondrial encephalomyopathies are a heterogeneous group of clinical disorders generally caused d...
We studied 22 subjects carrying the A3243G point mutation of human mitochondrial DNA (mtDNA). In 14 ...
Abstract Background: Mitochondrial diseases present with variable multi-organ symptoms. Common disea...
Monogenic forms of cerebral small vessel disease (CSVD) can be caused by both variants in nuclear DN...
The purpose of this study was to identify novel mitochondrial deoxyribonucleic acid (mtDNA) mutation...
Myalgic Encephalomyelitis (ME), also known as Chronic Fatigue Syndrome (CFS) is a debilitating condi...
mtDNA is transmitted through the maternal line and its sequence variability, which is population spe...
Abstract: Mitochondrial diseases are highly heterogeneous metabolic disorders caused by genetic alte...
Mitochondria are complex organelles, which are involved in various important metabolic pathways. Due...
MELAS, MERRF, LHON and NARP, are well-established mitochondrial syndromes associated with specific p...
Mitochondrial diseases are a heterogeneous group of rare genetic disorders that can be caused by mut...
Background Mitochondrial Diseases (MDs) are a diverse group of neurometabolic disorders characterize...
A broad spectrum of rare disease presentations can now be investigated by analysing mitochondrial DN...