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Clinical and genetic features of anoctaminopathy in Saudi Arabia

OBJECTIVES: Characterization of the phenotypic, pathological, radiological, and genetic findings in 2 Saudi Arabian families with anoctaminopathies, and limb girdle muscular dystrophy type 2L (LGMD2L). METHODS: Over a 2-year period from December 2010 to January 2013, the clinical presentations were...

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Detalles Bibliográficos
Autores principales: Bohlega, Saeed, Monies, Dorothy M., Abulaban, Ahmad A., Murad, Hatem N., Alhindi, Hindi N., Meyer, Brian F.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Riyadh : Armed Forces Hospital 2015
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4727640/
https://www.ncbi.nlm.nih.gov/pubmed/25864073
http://dx.doi.org/10.17712/nsj.2015.2.20140547