Details

Autor(en) / Beteiligte

• Monnot, S
• Chabrol, B
• Cano, A
• Pellissier, J F
• Collignon, P
• Montfort, M F
• Paquis-Flucklinger, V

Titel

Cytochrome c oxydase-deficient Leigh syndrome with homozygous mutation in SURF1 gene

Ist Teil von

• Archives de pédiatrie : organe officiel de la Société française de pédiatrie, 2005-05, Vol.12 (5), p.568-571

Ort / Verlag

France

Erscheinungsjahr

2005

Quelle

Access via ScienceDirect (Elsevier)

Beschreibungen/Notizen

• Leigh syndrome is a heterogeneous disorder, usually due to a defect in oxidative metabolism. Mutations in SURF1 gene have been identified in patients with cytochrome c oxidase deficiency. We report a homozygous splice site deletion [516-2_516-1delAG] in a young girl presenting with cytochrome c oxidase-deficient Leigh syndrome. Identification of molecular defect is indispensable for genetic counselling and prenatal diagnosis.