Intensive care unit-acquired weakness(ICU-AW;ICD-10 Code:G72.81)is a syndrome of generalized weakness described as clinically detectable weakness in critically ill patients with no other credible cause.The risk factor...
Objective To analyze the clinical phenotypic characteristics,muscle pathology,genetic mutations and related proteins of myofibrillar myopathy 3 caused by mutation in MYOT gene,and to conduct a literature review and su...
CGG repeat expansions in LOC642361/NUTM2B-AS1 have recently been identified as a cause of oculopharyngeal myopathy with leukoencephalopathy.However,since only three patients from a single family were reported,it remai...
BACKGROUND Rhabdomyolysis is a life-threatening condition,often leading to progressive renal failure and death.It is caused by destruction of skeletal muscle and the release of myoglobin and other intracellular conten...
supported by the Sustainable Development Project of Shenzhen Science and Technology Innovation Commission(China)(No.KCXFZ202002011008256);the Basic Research Project of Shenzhen Science and Technology Innovation Commission(China)(No.JCYJ20170307095633450);the National Natural Science Foundation of China(NSFC81925001).
Primary ciliary dyskinesia(PCD)is an autosomal recessive disease caused by defects in motile cilia and clinically characterized by bronchiectasis,situs inversus,nasosinusitis,recurrent respiratory infections,tympaniti...
BACKGROUND Immune-mediated necrotizing myopathy is a rare autoimmune myopathy characterized by muscle weakness and elevated serum creatine kinase,with unique skeletal muscle pathology and magnetic resonance imaging fe...
BACKGROUND Chronic intestinal pseudo-obstruction(CIPO)is a syndrome of intestinal motor dysfunction caused by intestinal nerve,muscle,and/or Cajal stromal cell lesions.CIPO is a serious category of gastrointestinal dy...