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Merosin-negative congenital muscular dystrophy: Report of five cases

CONTEXT: Congenital muscular dystrophy type 1A (MDC1A) is caused by mutations in the laminin α-2 gene encoding laminin-a2. AIMS: The purpose of this study is to determine clinical and genetic results in five Turkish patients with MDC1A. SETTING AND DESIGNS: Five children with MDC1A were retrospectiv...

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Detalles Bibliográficos
Autores principales: Incecik, Faruk, Herguner, Ozlem M., Ceylaner, Serdar, Altunbasak, Sakir
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Medknow Publications & Media Pvt Ltd 2015
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4770646/
https://www.ncbi.nlm.nih.gov/pubmed/26962340
http://dx.doi.org/10.4103/1817-1745.174432