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Int J Mol Sci
December 2024
Department of Biomedical Sciences, University of Padova, Via U. Bassi 58/B, 35131 Padova, Italy.
Limb-girdle muscular dystrophy type 2E/R4 (LGMD2E/R4) is a rare disease that currently has no cure. It is caused by defects in the gene, mainly missense mutations, which cause the impairment of the sarcoglycan complex, membrane fragility, and progressive muscle degeneration. Here, we studied the fate of some β-sarcoglycan (β-SG) missense mutants, confirming that, like α-SG missense mutants, they are targeted for degradation through the ubiquitin-proteasome system.
View Article and Find Full Text PDFToxicol Pathol
October 2024
Labcorp Early Development Laboratories, Madison, Wisconsin, USA.
Autops Case Rep
June 2024
All India Institute of Medical Sciences, Department of Forensic Medicine and Toxicology, Patna, Bihar, India.
BMC Nephrol
June 2024
Department of Pediatric Nephrology and Rheumatism and Immunology, Children's Hospital Affiliated to Shandong University, Jinan, Shandong Province, China.
Background: Autosomal recessive polycystic kidney disease (ARPKD) is a rare inherited cystic disease characterized by bilateral renal cyst formation and congenital liver fibrosis. Cardiovascular disorders such as noncompaction of ventricular myocardium (NVM) have not been reported with ARPKD.
Case Presentation: A 5-month-old girl was examined after presenting with a fever and turbid urine for one day and was diagnosed as urinary tract infection.
Front Cardiovasc Med
February 2024
Cardiolology Dept., Hospital Universitario Puerta de Hierro, Madrid, Spain.
Introduction: We conducted a study to determine the prevalence of structural heart disease in patients with CF, the characteristics of a cardiomyopathy not previously described in this population, and its possible relationship with nutritional deficiencies in CF.
Methods: We studied 3 CMP CF patients referred for heart-lung transplantation and a prospective series of 120 adult CF patients. All patients underwent a clinical examination, blood tests including levels of vitamins and trace elements, and echocardiography with evaluation of myocardial strain.
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