Mitochondrial diseases are amongst the most genetically and phenotypically diverse groups
of inherited diseases. The vast phenotypic overlap with other disease entities together with …

Mitochondrial disease is hugely diverse with respect to associated clinical presentations and
underlying genetic causes, with pathogenic variants in over 300 disease genes currently …

Purpose We investigated the value of transcriptome sequencing (RNAseq) in ascertaining
the consequence of DNA variants on RNA transcripts to improve the diagnostic rate from …

Malformations of cortical development (MCDs) are neurodevelopmental disorders that result
from abnormal development of the cerebral cortex in utero. MCDs place a substantial …

Mitochondrial disorders have emerged as a common cause of inherited disease, but are
traditionally viewed as being difficult to diagnose clinically, and even more difficult to …

Accurate diagnosis is the cornerstone of medicine; it is essential for informed care and
promoting patient and family well-being. However, families with a rare genetic disease …

The concept of a mitochondrial disorder was initially described in 1962, in a patient with
altered energy metabolism. Over time, mitochondrial energy metabolism has been …

Powerful, recent advances in technologies to analyze the genome have had a profound
impact on the practice of medical genetics, both in the laboratory and in the clinic. Increasing …

Mitochondrial complex I harbors 7 mitochondrial and 38 nuclear-encoded subunits. Its
biogenesis requires the assembly and integration of distinct intermediate modules, mediated …

Mendelian disorders with cutaneous manifestations comprise a genotypically
heterogeneous group of over 1,000 diseases, and in most of them mutant genes have been …