J Korean Neurol Assoc.
2020 May;38(2):133-137. 10.17340/jkna.2020.2.9.
Hereditary Myopathy with Early Respiratory Failure with a Heterozygous TTN Gene Missense Mutation
- Affiliations
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- 1Department of Neurology, Chungnam National University Hospital, Daejeon, Korea
- 2Department of Neurology, Pusan National University School of Medicine, Busan, Korea
- 3Department of Neurology, Pusan National University Yangsan Hospital, Yangsan, Korea
- KMID: 2501761
- DOI: http://doi.org/10.17340/jkna.2020.2.9
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.
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