Introduction: Familial dilated cardiomyopathy with conduction system defects variably associated with skeletal muscle abnormalities is frequently caused by LMNA gene mutations. Methods: A family affected by cardiac abnormalities, either isolated or variably associated with skeletal muscle compromise
A mutation in a rare type of intron in a sodium-channel gene results in aberrant splicing and causes myotonia
β Scribed by Tomoya Kubota; Xavier Roca; Takashi Kimura; Yosuke Kokunai; Ichizo Nishino; Saburo Sakoda; Adrian R. Krainer; Masanori P. Takahashi
- Publisher
- John Wiley and Sons
- Year
- 2011
- Tongue
- English
- Weight
- 414 KB
- Volume
- 32
- Category
- Article
- ISSN
- 1059-7794
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