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Low incidence of limb-girdle muscular dystrophy type 2C revealed by a mutation study in Japanese patients clinically diagnosed with DMD

BACKGROUND: Limb-girdle muscular dystrophy type 2C (LGMD2C) is an autosomal recessive muscle dystrophy that resembles Duchenne muscular dystrophy (DMD). Although DMD is known to affect one in every 3500 males regardless of race, a widespread founder mutation causing LGMD2C has been described in Nort...

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Detalles Bibliográficos
Autores principales: Okizuka, Yo, Takeshima, Yasuhiro, Itoh, Kyoko, Zhang, Zhujun, Awano, Hiroyuki, Maruyama, Koichi, Kumagai, Toshiyuki, Yagi, Mariko, Matsuo, Masafumi
Formato: Texto
Lenguaje:English
Publicado: BioMed Central 2010
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2861025/
https://www.ncbi.nlm.nih.gov/pubmed/20350330
http://dx.doi.org/10.1186/1471-2350-11-49