Neuromuscular DiseasesNeuromuscular DiseasesНервно-мышечные болезни2222-87212413-0443Publishing House ABV Press9010.17650/2222-8721-2012-0-3-67-69CLINICAL CASEКЛИНИЧЕСКИЙ РАЗБОРСлучай диагностики проксимальной спинальной амиотрофии с врожденными переломамиДадалиЕ. Л.
Russian Federation
ШарковаИ. В.
Russian Federation
БессоноваЛ. А.
Russian Federation
ЗабненковаВ. В.
Russian Federation
ПоляковА. В.
Russian Federation
ФГБУ «Медико-генетический научный центр» РАМН, Москва200620122367692002201520022015Copyright ©; 2012, ., ., ., ., .Copyright ©; 2012, Дадали Е.Л., Шаркова И.В., Бессонова Л.А., Забненкова В.В., Поляков А.В.2012., ., ., ., .Дадали Е.Л., Шаркова И.В., Бессонова Л.А., Забненкова В.В., Поляков А.В.https://creativecommons.org/licenses/by/4.0https://nmb.abvpress.ru/jour/article/view/90

Спинальные мышечные атрофии (СМА) — группа генетически гетерогенных наследственных заболеваний, обусловленных дегенерацией мотонейронов передних рогов спинного мозга. Большинство инфантильных вариантов проксимальных СМА наследуется аутосомно-рецессивно. Мы представляем описание девочки с тяжелым вариантом СМА в сочетании с врожденными переломами. Представленный нами случай подтверждает предположение о возможности аутосомно-рецессивного типа наследования этого редкого варианта СМА.

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