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Importance of early diagnosis in LMNA-related muscular dystrophy for cardiac surveillance
- Title
- Importance of early diagnosis in LMNA-related muscular dystrophy for cardiac surveillance
- Authors
- Choi, Sun Ah; Cho, Anna; Kim, Soo Yeon; Kim, Woo Joong; Shim, Young Kyu; Lee, Jin Sook; Jang, Se Song; Lim, Byung Chan; Kim, Hunmin; Hwang, Hee; Choi, Ji Eun; Kim, Ki Joong; Kim, Man Jin; Seong, Moon-Woo; Chae, Jong-Hee
- Ewha Authors
- 조안나
- SCOPUS Author ID
- 조안나
- Issue Date
- 2019
- Journal Title
- MUSCLE & NERVE
- ISSN
- 0148-639X
1097-4598
- Citation
- MUSCLE & NERVE vol. 60, no. 6, pp. 668 - 672
- Keywords
- cardiac involvement; childhood-onset muscular dystrophy; dysrhythmia; lamin A/C; pediatric
- Publisher
- WILEY
- Indexed
- SCIE; SCOPUS
- Document Type
- Article
- Abstract
- Introduction The identification of LMNA-related muscular dystrophy is important because it poses life-threatening cardiac complications. However, diagnosis of LMNA-related muscular dystrophy based on clinical features is challenging. Methods We reviewed the clinical phenotypes of 14 children with LMNA variants, focusing on the cardiac function and genotypes. Results Most patients presented with motor developmental delay or gait abnormalities. Eight (57%) patients had prominent neck extensor weakness or contractures. All patients showed ankle contractures at an early stage. Regular cardiac surveillance allowed for the detection of dysrhythmias in 57% of patients at a mean age of 14 years (range, 5-26). All patients had missense variants; however, there were no clear phenotype-genotype correlations. Discussion Early diagnosis of LMNA-related muscular dystrophy provides an opportunity for cardiac surveillance, potentially leading to the prevention of cardiac mortality in children.
- DOI
- 10.1002/mus.26700
- Appears in Collections:
- 의과대학 > 의학과 > Journal papers
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