Annals of Clinical and Experimental NeurologyAnnals of Clinical and Experimental NeurologyАнналы клинической и экспериментальной неврологии2075-54732409-2533Eco-Vector62310.25692/ACEN.2019.4.11Clinical analysisКлинический разборUnknownGNE myopathy (Nonaka myopathy)GNE-миопатия (миопатия Нонаки)RudenskayaGalina E.РуденскаяГалина Евгеньевна
Russian Federation
rudenskaya@med-gen.ruChukhrovaAlena L.ЧухроваАлена Львовна
Russian Federation
rudenskaya@med-gen.ruRyzhkovaOksana P.РыжковаОксана Петровна
Russian Federation
rudenskaya@med-gen.ruResearch Centre for Medical GeneticsФГБНУ «Медико-генетический научный центр имени Н.П. Бочкова»26122019134859026122019Copyright ©; 2019, Rudenskaya G.E., Chukhrova A.L., Ryzhkova O.P.Copyright ©; 2019, Rudenskaya G.E., Chukhrova A.L., Ryzhkova O.P.2019Rudenskaya G.E., Chukhrova A.L., Ryzhkova O.P.Rudenskaya G.E., Chukhrova A.L., Ryzhkova O.P.https://creativecommons.org/licenses/by/4.0https://annaly-nevrologii.com/pathID/article/view/623

GNE myopathy (Nonaka myopathy) is a rare recessive muscular dystrophy associated with the GNE gene, which is involved in sialic acid synthesis. Typical onset is in the third decade of life with distal weakness of the arms and legs, gradually progressing to the proximal muscles, along with severe generalized myopathy and loss of ambulation usually occurring 10–20 years after disease onset. Exomе sequencing methods have greatly increased the possibility of diagnosis of this and other rare hereditary diseases. A case of GNE myopathy with onset at 26 years of age and a prolonged search for a diagnosis, which was finally made after 12 years, is presented. Whole exome sequencing with subsequent Sanger sequencing verification found compound heterozygosity of the GNE mutations not previously described: с.787delA (p.Met263CysfsTer4) and c.2005G>T (p.Ala669Ser). Differential diagnosis and a literature review are presented.

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.

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