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TTN 유전자 이형접합 과오돌연변이와 연관된 조기 호흡부전을 동반한 선천성 근육병증

Hereditary Myopathy with Early Respiratory Failure with a Heterozygous TTN Gene Missense Mutation

대한신경과학회지 2020년 38권 2호 p.133 ~ 137
장희진 ( Chang Hee-Jin ) - Chungnam National University Hospital Department of Neurology

박영은 ( Park Young-Eun ) - Pusan National University School of Medicine Department of Neurology
김대성 ( Kim Dae-Seong ) - Pusan National University Yangsan Hospital Department of Neurology
신진홍 ( Shin Jin-Hong ) - Pusan National University Yangsan Hospital Department of Neurology
이완균 ( Lee Wan-Kiun ) - Chungnam National University Hospital Department of Neurology
박기홍 ( Park Ki-Hong ) - Chungnam National University Hospital Department of Neurology
손은희 ( Sohn Eun-Hee ) - Chungnam National University Hospital Department of Neurology

Abstract


Hereditary myopathy with early respiratory failure (HMERF) is characterized by early respiratory insufficiency which is inappropriate to the degree of limb muscle weakness. Recently, mutation in TTN gene was found in HMERF patients with the aid of gene sequencing. We describe the first case presenting with distal leg weakness and early respiratory failure confirmed by TTN gene mutation in Korea

키워드

Hereditary myopathy with early respiratory failure; TTN; Respiratory insufficiency
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