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KMID : 0359720200380020133
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Journal of the Korean Neurological Association
2020 Volume.38 No. 2 p.133 ~ p.137
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Hereditary Myopathy with Early Respiratory Failure with a Heterozygous TTN Gene Missense Mutation
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Chang Hee-Jin
Park Young-Eun
Kim Dae-Seong
Shin Jin-Hong
Lee Wan-Kiun
Park Ki-Hong
Sohn Eun-Hee
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Abstract
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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
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KEYWORD
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Hereditary myopathy with early respiratory failure, TTN, Respiratory insufficiency
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