Zebrafish as a Model Organism for Research in Rare Genetic Neuromuscular Diseases. [PDF]
Akyürek EE +4 more
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Molecular Bases of Myopathies and Their Impact on Clinical Practice: Advances and Future Perspectives. [PDF]
Campuzano-Donoso M +4 more
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A survey on mutation spectrum in Iranian patients with limb-girdle muscular dystrophies. [PDF]
Khalilian S +6 more
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National diagnostic gaps for TK2 Deficiency in Italy: insights from the AIM Multicenter Survey. [PDF]
Mancuso M, Lamperti C, Musumeci O.
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Treatabolome for finely targeting muscle pathology in LGMD. [PDF]
Angelini C.
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Limb-girdle muscular dystrophy type 2Y with cardiac involvement in a 23-year-old woman: a case report. [PDF]
Zhang X, Luo Y, Zhao Y, Lu H, Ji X.
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Genetic heterogeneity within a consanguineous family involving the LGMD 2D and the LGMD 2C genes
Neuromuscular Disorders, 2006The sarcoglycanopathies are a group of autosomal recessive limb girdle muscular dystrophies (AR-LGMD 2) characterised by mutations in gene encoding one of the sarcoglycan subunits. Mutations in SGCA, SGCB, SGCG and SGCD genes are associated with LGMD 2D, 2E, 2C and 2F, respectively. We report three Tunisian patients belonging to the same consanguineous
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