Tuyển tập báo cáo các nghiên cứu khoa học quốc tế ngành y học dành cho các bạn tham khảo đề tài: A patient with typical clinical features of mitochondrial encephalopathy, lactic acidosis and stroke-like episodes (MELAS) but without an obvious genetic cause: a case report | Journal of Medical Case Reports BioMed Central Open Access Case report A patient with typical clinical features of mitochondrial encephalopathy lactic acidosis and stroke-like episodes MELAS but without an obvious genetic cause a case report Khaled K Abu-Amero 1 Hesham Al-Dhalaan2 Saeed Bohlega3 Ali Hellani2 and Robert W Taylor4 Address 1Molecular Genetics Laboratory College of Medicine King Saud University Riyadh Saudi Arabia 2Neuroscience Department King Faisal Specialist Hospital and Research Centre Riyadh Saudi Arabia 3PGD Laboratory Saad Specialist Hospital Al-Khobar Saudi Arabia and 4Mitochondrial Research Group The Medical School Newcastle University Newcastle upon Tyne UK Email Khaled K Abu-Amero - abuamero@ Hesham Al-Dhalaan - hesham@ Saeed Bohlega - sbohlega@ Ali Hellani - ali@ Robert W Taylor - Corresponding author Published 15 October 2009 Received 10 April 2008 Journal of Medical Case Reports 2009 3 77 doi 1752-1947-3-77 Accepted 15 October 2009 This article is available from http content 3 1 77 2009 Abu-Amero et al licensee BioMed Central Ltd. This is an Open Access article distributed under the terms of the Creative Commons Attribution License http licenses by which permits unrestricted use distribution and reproduction in any medium provided the original work is properly cited. Abstract Introduction There are currently 23 missense point mutations and one 4 basepair deletion spanning different mitochondrial genes associated with mitochondrial encephalopathy lactic acidosis and stroke-like episodes MELAS . The spectrum of mitochondrial DNA mutations in Arab patients with MELAS is largely unknown. Case presentation A standard clinical examination was carried out on a 34-year-old Saudi woman showing clinical features of MELAS. Fresh frozen .
