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Clinical and genetic analysis of the first known Asian family with myotonic dystrophy type 2
Myotonic dystrophy type 2 (DM2) is more common than DM1 in Europe and is considered a rare cause of myotonic dystrophies in Asia. Its clinical course is also milder with more phenotypic variability than DM1. We herein describe the first known Asian family (three affected siblings) with DM2 based on...
Autores principales: | Nakayama, Takahiro, Nakamura, Harumasa, Oya, Yasushi, Kimura, Takashi, Imahuku, Ichiro, Ohno, Kinji, Nishino, Ichizo, Abe, Koji, Matsuura, Tohru |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Nature Publishing Group
2014
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3973124/ https://www.ncbi.nlm.nih.gov/pubmed/24430576 http://dx.doi.org/10.1038/jhg.2013.133 |
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