Diagnose Kearns–Sayre syndrome genetically and investigate the phenotype comprehensively

Josef Finsterer (1) , Sinda Zarrouk-Mahjoub (2)

1 Krankenanstalt Rudolfstiftung
2 LR11IPT05 - Laboratoire de Génomique Biomédicale et Oncogénétique - Biomedical Genomics and Oncogenetics Laboratory

Letter to the editor Comment on : Leal M Dhoble C Lee J Lopez D Menéndez LS . A rare case of Kearns-Sayre syndrome in a 17-year-old Venezuelan male with bilateral ptosis as the initial presentation. Oxf Med Case Reports 2016;2016:34–6.

Domains: Life Sciences [q-bio]

Josef Finsterer, Sinda Zarrouk-Mahjoub. Diagnose Kearns–Sayre syndrome genetically and investigate the phenotype comprehensively. Oxford Medical Case Reports, 2016, 2016 (8), pp.omw059. ⟨10.1093/omcr/omw059⟩. ⟨pasteur-02010852⟩