Clinical and genetic features of anoctaminopathy in Saudi Arabia

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

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Veröffentlicht in:	Neurosciences 2015-04, Vol.20 (2), p.173-177
Hauptverfasser:	Bohlega, Saeed, Monies, Dorothy M, Abulaban, Ahmad A, Murad, Hatem N, Alhindi, Hindi N, Meyer, Brian F
Format:	Artikel
Sprache:	eng
Schlagworte:	Age of Onset Arabs Brief Communication Chromosome Mapping DNA - genetics Exercise Tolerance Gene Deletion Humans Male Middle Aged Muscle, Skeletal - physiopathology Muscular Dystrophies, Limb-Girdle - genetics Muscular Dystrophies, Limb-Girdle - physiopathology Mutation Polymerase Chain Reaction Saudi Arabia
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