Compound heterozygous POMGNT1 mutations leading to muscular dystrophy-dystroglycanopathy type A3: a case report.

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第一作者： Kondakova Olga,Borisovna

第一单位： Scientific and Practical Centre of Pediatric psychoneurology of Moscow Healthcare Department, Michurinsky prospect, 74, 119602, Moscow, Russia.

作者： Kondakova Olga,Borisovna ^[1] ; Krasnenko Anna,Yurievna ^[2] ; Tsukanov Kirill,Yurievich ^[3] ; Klimchuk Olesya,Igorevna ^[2] ; Korostin Dmitriy,Olegovich ^[2] ; Davidova Anna,Igorevna ^[2] ; Batysheva Tatyana,Timofeevna ^[3] ; Zhurkova Natalia,Vyacheslavovna ^[4] ; Surkova Ekaterina,Ivanovna ^[1] ; Shatalov Peter,Alekseevich ^[5] ; Ilinsky Valery,Vladimirovich ^[6]

作者单位： Scientific and Practical Centre of Pediatric psychoneurology of Moscow Healthcare Department, Michurinsky prospect, 74, 119602, Moscow, Russia. ^[1] Genotek Ltd, Nastavnicheskii pereulok 17/1, 105120, Moscow, Russia. ^[2] Pirogov Russian National Research Medical University, Ostrovitianova street 1, 117997, Moscow, Russia. ^[3] Institute of Gene Biology, Vavilova street 34/5, 119334, Moscow, Russia. ^[4] National Medical Research Centre for Children's Health, Lomonosov prospect 2/1, 119296, Moscow, Russia. ^[5] Genotek Ltd, Nastavnicheskii pereulok 17/1, 105120, Moscow, Russia. esurkova@genotek.ru. ^[6] Veltischev Research and Clinical Institute for Pediatrics of the Pirogov Russian National Research Medical University, Taldomskaya str 2, 125412, Moscow, Russia. ^[7] Institute of Biomedical Chemistry, Pogodinskaya street 10 building 8, 119121, Moscow, Russia. ^[8] Vavilov Institute of General Genetics, Gubkina street 3, 119333, Moscow, Russia. ^[9]

关键词 Dystrophy-dystroglycanopathy MEB disease POMGNT1