Article
Founder p.Arg 446* mutation in the PDHX gene explains over half of cases with congenital lactic acidosis in Roma children.
Molecular genetics and metabolism - 1 Jan 2000
Ivanov Ivan S, Azmanov Dimitar N, Ivanova Mariya B, Chamova Teodora, Pacheva Ilyana H, Panova Margarita V, Song Sharon, Morar Bharti, Yordanova Ralitsa V, Galabova Fani K, Sotkova Iglika G, Linev Alexandar J, Bitchev Stoyan, Shearwood Anne-Marie J, Kancheva Dalia, Gabrikova Dana, Karcagi Veronika, Guergueltcheva Velina, Geneva Ina E, Bozhinova Veneta, Stoyanova Vili K, Kremensky Ivo, Jordanova Albena, Savov Aleksey, Horvath Rita, Brown Matthew A, Tournev Ivailo, Filipovska Aleksandra, Kalaydjieva Luba
Abstract excerpt
Investigation of 31 of Roma patients with congenital lactic acidosis (CLA) from Bulgaria identified homozygosity for the R446* mutation in the PDHX gene as the most common cause of the disorder in this ethnic group. It accounted for around 60% of patients in the study and over 25% of all CLA cases referred to the National Genetic Laboratory in Bulgaria. The detection of a homozygous patient from Hungary and...
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