Hereditary Myopathy with Early Respiratory Failure with a Heterozygous TTN Gene Missense Mutation
- Author:
Hee Jin CHANG
1
;
Young-Eun PARK
;
Dae-Seong KIM
;
Jin-Hong SHIN
;
Wankiun LEE
;
Ki-Hong PARK
;
Eun Hee SOHN
Author Information
- Publication Type:증례
- From:Journal of the Korean Neurological Association 2020;38(2):133-137
- CountryRepublic of Korea
- Language:Korean
- 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.
