Affiliation: Centre Hospitalier de Luxembourg
- Early myoclonic epilepsy, hypertrophic cardiomyopathy and subsequently a nephrotic syndrome in a patient with CoQ10 deficiency caused by mutations in para-hydroxybenzoate-polyprenyl transferase (COQ2)Emmanuel Scalais
Department of Paediatrics, Division of Paediatric Neurology, Centre Hospitalier de Luxembourg, Rue Barble, 4, L 1210 Luxembourg, Luxembourg Electronic address
Eur J Paediatr Neurol 17:625-30. 2013..Primary coenzyme Q10 (CoQ10) deficiencies are heterogeneous autosomal recessive disorders. CoQ2 mutations have been identified only rarely in patients. All affected individuals presented with nephrotic syndrome in the first year of life...
- Polymerase gamma deficiency (POLG): clinical course in a child with a two stage evolution from infantile myocerebrohepatopathy spectrum to an Alpers syndrome and neuropathological findings of Leigh's encephalopathyEmmanuel Scalais
Division of Paediatric Neurology, Centre Hospitalier de Luxembourg, Luxembourg
Eur J Paediatr Neurol 16:542-8. 2012..Description of the clinical course in a child compound heterozygous for POLG1 mutations, neuropathology findings and results of dietary treatment based on fasting avoidance and long chain triglycerides (LCT) restriction...
- Mitochondrial mosaics in the liver of 3 infants with mtDNA defectsFrank Roels
Department of Pathology, Ghent University Hospital, Block A, De Pintelaan 185, 9000 Gent, Belgium
BMC Clin Pathol 9:4. 2009..Tentative explanations for the mitochondrial mosaics are, in one patient, unequal partition of mutated mitochondria during mitoses, and in two others, an interaction between products of several genes required for mtDNA maintenance...