Publication Epilepsy and mental retardation limited to females with PCDH19 mutations can present de novo or in single generation families.
Publication Acylcarnitine profiles in fibroblasts from patients with respiratory chain defects can resemble those from patients with mitochondrial fatty acid beta-oxidation disorders.
Publication Respiratory chain complex III [correction of complex] in deficiency with pruritus: a novel vitamin responsive clinical feature.
Publication A mutation causing DHPR deficiency results in a frameshift and a secondary splicing defect.
