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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...
Autores principales: | , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Riyadh : Armed Forces Hospital
2015
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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 |