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Two novel missense mutations in the myostatin gene identified in Japanese patients with Duchenne muscular dystrophy

BACKGROUND: Myostatin is a negative regulator of skeletal muscle growth. Truncating mutations in the myostatin gene have been reported to result in gross muscle hypertrophy. Duchenne muscular dystrophy (DMD), the most common lethal muscle wasting disease, is a result of an absence of muscle dystroph...

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Detalles Bibliográficos
Autores principales: Nishiyama, Atsushi, Takeshima, Yasuhiro, Saiki, Kayoko, Narukage, Akiko, Oyazato, Yoshinobu, Yagi, Mariko, Matsuo, Masafumi
Formato: Texto
Lenguaje:English
Publicado: BioMed Central 2007
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1855920/
https://www.ncbi.nlm.nih.gov/pubmed/17428346
http://dx.doi.org/10.1186/1471-2350-8-19