Associated Papers
Natural History, Phenotype Spectrum and Clinical Outcomes of Desmin (DES)-Associated Cardiomyopathy.
Asatryan B et al.
Medrxiv : the Preprint Server for Health Sciences, 2024
Deep Characterization of a Greek Patient with Desmin-Related Myofibrillar Myopathy and Cardiomyopathy.
Papadopoulos C et al.
International Journal of Molecular Sciences, 2023
A novel phenotype with splicing mutation identified in a Chinese family with desminopathy.
Fan P et al.
Chinese Medical Journal, 2019
Desmin in muscle and associated diseases: beyond the structural function.
Hnia K et al.
Cell and Tissue Research, 2015
[Primary immunodeficiency complicated with Bacillus Calmette-Guerin infection: identification and clinical phenotype of a case of novel interleukin-12Rbeta1 gene mutation].
Xie N et al.
Zhonghua Er Ke Za Zhi = Chinese Journal of Pediatrics, 2008
[PCR-based site-directed mutagenesis and recombinant expression plasmid construction of a SCN5A mutation (K317N) identified in a Chinese family with Brugada syndrome].
Yi SD et al.
Di 1 Jun Yi Da Xue Xue Bao = Academic Journal of the First Medical College of Pla, 2003
New mutation of the desmin gene identified in an extended Indian pedigree presenting with distal myopathy and cardiac disease.
Nalini A et al.
Neurology India, 0
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