Associated Papers
Molecular Diagnosis of Limb-Girdle Muscular Dystrophy Using Next-Generation Sequencing Panels.
Sarıkaya Uzan G et al.
Molecular Syndromology, 2024
Impact of PYROXD1 deficiency on cellular respiration and correlations with genetic analyses of limb-girdle muscular dystrophy in Saudi Arabia and Sudan.
Saha M et al.
Physiological Genomics, 2018
LGMD2D syndrome: the importance of clinical and molecular genetics in patient and family management. Case Report.
Al-Harbi KM et al.
Neuro Endocrinology Letters, 2016
Sarcolemmal alpha and gamma sarcoglycan protein deficiencies in Turkish siblings with a novel missense mutation in the alpha sarcoglycan gene.
Diniz G et al.
Pediatric Neurology, 2014
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