A Splice Site Mutation in Laminin-α2 Results in a Severe Muscular Dystrophy and Growth Abnormalities in Zebrafish

Congenital muscular dystrophy (CMD) is a clinically and genetically heterogeneous group of inherited muscle disorders. In patients, muscle weakness is usually present at or shortly after birth and is progressive in nature. Merosin deficient congenital muscular dystrophy (MDC1A) is a form of CMD caus...

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Detalles Bibliográficos
Autores principales: Gupta, Vandana A., Kawahara, Genri, Myers, Jennifer A., Chen, Aye T., Hall, Thomas E., Manzini, M. Chiara, Currie, Peter D., Zhou, Yi, Zon, Leonard I., Kunkel, Louis M., Beggs, Alan H.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2012
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3428294/
https://www.ncbi.nlm.nih.gov/pubmed/22952766
http://dx.doi.org/10.1371/journal.pone.0043794

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