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Possible influences on the expression of X chromosome-linked dystrophin abnormalities by heterozygosity for autosomal recessive Fukuyama congenital muscular dystrophy.

Abnormalities of dystrophin, a cytoskeletal protein of muscle and nerve, are generally considered specific for Duchenne and Becker muscular dystrophy. However, several patients have recently been identified with dystrophin deficiency who, before dystrophin testing, were considered to have Fukuyama c...

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Detalhes bibliográficos
Publicado no:Proc Natl Acad Sci U S A
Principais autores: Beggs, A H, Neumann, P E, Arahata, K, Arikawa, E, Nonaka, I, Anderson, M S, Kunkel, L M
Formato: Artigo
Idioma:Inglês
Publicado em: National Academy of Sciences 1992
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.govhttps://pmc.ncbi.nlm.nih.gov/articles/PMC48291/
https://ncbi.nlm.nih.govhttps://pubmed.ncbi.nlm.nih.gov/1731332/
https://ncbi.nlm.nih.govhttps://doi.org/10.1073/pnas.89.2.623
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