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Clinical and Genetic Analysis of Korean Patients with Facioscapulohumeral Muscular Dystrophy

Facioscapulohumeral muscular dystrophy (FSHD) is an autosomal dominantly inherited muscular disorder, which is characterized by weakness of facial, shoulder and hip girdle, humeral, and anterior distal leg muscles. The FSHD gene has been mapped to 4q35 and a deletion of integral copies of a 3.3-kb D...

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Detalles Bibliográficos
Autores principales: Ki, Chang-Seok, Lee, Seung-Tae, Kim, Kyung-Sook, Kim, Jong-Won, Hong, Yoon-Ho, Sung, Jung-Joon, Park, Kyung Seok, Lee, Kwang-Woo
Formato: Texto
Lenguaje:English
Publicado: The Korean Academy of Medical Sciences 2008
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2610659/
https://www.ncbi.nlm.nih.gov/pubmed/19119436
http://dx.doi.org/10.3346/jkms.2008.23.6.959