jmg.bmj7d
TMEM16A deficiency: a potentially fatal neonatal disease resulting from impaired chloride currents
Introduction TMEM16A is a calcium-activated chloride channel expressed in various secretory epithelia. Two siblings presented in early infancy with reduced intestinal peristalsis and recurrent ...
jmg.bmj8d
Infantile cardiomyopathy caused by a mutation in the overlapping region of mitochondrial ATPase 6 and 8 genes
Background: Infantile cardiomyopathy is a genetically heterogeneous disorder with significant morbidity and mortality. Methods: This study aimed to identify the mutation present in four unrelated ...
jmg.bmj11d
A family study of renal agenesis
A family study of bilateral renal agenesis was undertaken based on 103 patients with bilateral renal agenesis, ascertained through stillbirth and neonatal death certificates, and confirmed by necropsy ...
jmg.bmj11d
Significance of non-coding circular RNAs and micro RNAs in the pathogenesis of cardiovascular diseases
Correspondence to Dr Guoan Zhao, The Cardiovascular ResearchCenter of the First Affiliated Hospital of Xinxiang Medical University, Xinxiang City 453003, China; zhaoguoan16{at}126.com Heart failure, ...
jmg.bmj12d
Mitochondrial mutations associated with aminoglycoside ototoxicity and hearing loss susceptibility identified by meta-analysis
1 Institute of Genomic and Personalized Medicine, College of Life Science and Technology, Huazhong University of Science and Technology, Wuhan, Hubei, China 2 Wuhan Women and Children Hospital, Wuhan, ...