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A slowly progressive form of limb-girdle muscular dystrophy type 2C associated with founder mutation in the SGCG gene in Puerto Rican Hispanics
Limb-girdle muscular dystrophy type 2C (LGMD2C) is considered one of the severe forms of childhood-onset muscular dystrophy. The geographical distribution of founder mutations in the SGCG gene has a prominent effect on the prevalence of LGMD2C in certain populations. The aim of this study was to con...
Autores principales: | Al-Zaidy, Samiah A, Malik, Vinod, Kneile, Kelley, Rosales, Xiomara Q, Gomez, Ana Maria, Lewis, Sarah, Hashimoto, Sayaka, Gastier-Foster, Julie, Kang, Peter, Darras, Basil, Kunkel, Louis, Carlo, Jose, Sahenk, Zarife, Moore, Steven A, Pyatt, Robert, Mendell, Jerry R |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
BlackWell Publishing Ltd
2015
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4367081/ https://www.ncbi.nlm.nih.gov/pubmed/25802879 http://dx.doi.org/10.1002/mgg3.125 |
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