Autism and Mitochondrial Disordersby
Dr. Charlotte Thompson
as having a mitochondrial electron transport chain defect. Dr. Enns notes that "mitochondrial disorders may be a rare cause... syndrome, distal chromosome 22q deletion, 15p duplication, Williams syndrome, and Rett syndrome...
Genetics Home Reference: Kearns-Sayre syndromeby
The mtDNA deletions that cause Kearns-Sayre syndrome result in the loss of genes important for mitochondrial... treatment providers.
Gene Review: Mitochondrial DNA Deletion Syndromes
Gene Tests: Mitochondrial DNA...
Genetics Home Reference: Leigh syndromeby
nih.govsyndrome have a mutation in nuclear DNA, about 20 to 25 percent have a mutation in mitochondrial DNA....
The most common mitochondrial DNA mutation in Leigh syndrome affects the MT-ATP6 gene, which provides instructions...
Genetics Home Reference: Barth syndromeby
Reviewed July 2014
What is Barth syndrome?
Barth syndrome is a rare condition characterized.... Barth syndrome occurs almost exclusively in males.
In males with Barth syndrome, dilated...