The frequency of mitochondrial polymerase gamma related disorders in a large Polish population cohort

Diseases related to DNA polymerase gamma dysfunction comprise of heterogeneous clinical presentations with variable severity and age of onset. Molecular screening for the common POLG variants: p.Ala467Thr, p.Trp748Ser, p.Gly848Ser, and p.Tre251Ile has been conducted in a large population cohort (n =...

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Veröffentlicht in:	Mitochondrion 2019-07, Vol.47, p.179-187
Hauptverfasser:	Piekutowska-Abramczuk, Dorota, Kaliszewska, Magdalena, Sułek, Anna, Jurkowska, Natalia, Ołtarzewski, Mariusz, Jabłońska, Ewa, Trubicka, Joanna, Głowacka, Aleksandra, Ciara, Elżbieta, Kowalski, Paweł, Langiewicz-Wojciechowska, Karolina, Tesarova, Marketa, Zeman, Jiri, Kierdaszuk, Biruta, Kuczyński, Dariusz, Chmielewski, Dariusz, Szymańska, Edyta, Bakuła, Agnieszka, Łusakowska, Anna, Lipowska, Marta, Brodacki, Bogdan, Pera, Joanna, Dorobek, Małgorzata, Rydzanicz, Małgorzata, Płoski, Rafał, Chrzanowska, Krystyna Halina, Bartnik, Ewa, Placha, Grzegorz, Kamińska, Anna, Kostera-Pruszczyk, Anna, Krajewska-Walasek, Małgorzata, Tońska, Katarzyna, Pronicka, Ewa
Format:	Artikel
Sprache:	eng
Schlagworte:	Adolescent Adult Amino Acid Substitution Ataxia - enzymology Ataxia - genetics Child Child, Preschool Diffuse Cerebral Sclerosis of Schilder - enzymology Diffuse Cerebral Sclerosis of Schilder - genetics DNA Polymerase gamma - genetics Female Genes, Recessive Humans Infant Infant, Newborn Male Middle Aged Mitochondrial Diseases - enzymology Mitochondrial Diseases - genetics Mutation, Missense Poland
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