GNE-миопатия (миопатия Нонаки)

Galina E. Rudenskaya1, Alena L. Chukhrova1, Oksana P. Ryzhkova1
1ФГБНУ «Медико-генетический научный центр имени академика Н.П. Бочкова», Москва, Россия

Аннотация


GNE-миопатия (миопатия Нонаки) — редкая рецессивная мышечная дистрофия, связанная с участвующим в синтезе сиаловой кислоты геном GNE. Типичны начало на 3-м десятилетии c дистальной слабости ног и рук, постепенное распространение на проксимальные мышцы, развитие тяжелой генерализованной миопатии с утратой ходьбы через 10–20 лет после начала. Методы экзомного секвенирования принципиально расширили возможности диагностики этой и других редких наследственных болезней. Описан случай GNE-миопатии с началом в 26 лет, длительным диагностическим поиском и диагнозом, установленным через 12 лет. Полноэкзомное секвенирование c последующей верификацией секвенированием по Сэнгеру выявило компаунд-гетерозиготность по ранее не описанным мутациям GNE: с.787delA (p.Met263CysfsTer4) и c.2005G>T (p.Ala669Ser). Обсуждается дифференциальная диагностика, представлен обзор литературы.

 


Ключевые слова

GNE-миопатия; миопатия Нонаки; ген GNE; новые мутации; полноэкзомное секвенирование

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Литература

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DOI: http://dx.doi.org/10.25692/ACEN.2019.4.11