【摘 要】
：
Objective We report a male case with late-onset riboflavin-responsive multiple acyl-CoA dehydrogenation deficiency(MADD) characterized by muscle weakness, muscle pain and intermittent vomiting after t
【机 构】
：
Laboratory of Neuromuscular Disorders and Department of Neurology of Qilu Hospital, Shandong Univers
【出 处】
：
The 12th Annual Asian and Oceanian Myology Center (AOMC)Scie
论文部分内容阅读
Objective We report a male case with late-onset riboflavin-responsive multiple acyl-CoA dehydrogenation deficiency(MADD) characterized by muscle weakness, muscle pain and intermittent vomiting after the age of 23.Methods and results This patient showed muscle weakness,muscle pain, intermittent vomiting and elevated blood creatine kinase level (1632 IU/L; normal ＜174 lU/L).He was diagnosed as polymyositis and received prednisone therapy (50 mg/day) for 40 days, but it was ineffective to his muscle weakness or muscle pain.After steroid treatment, blood creatine kinase level and EMG testwere normal, while muscle biopsy revealed slightly lipid storage.
其他文献
Backgroud The mutations in dysferlin gene are the main cause of Miyoshi myopathy characterized by symmetrical and selective involvement of distal limb muscles and limb-girdle muscular dystrophy type 2
Objectives To report the clinical and myopathological features in a case with limb-girdle muscular dystrophy 2C caused by a novel deletion mutation in the SGCG gene.Methods A 7-year-old girl developed
X-linked cardiomyopathy is a group of inherited disorders clinically characterised by cardiac muscle damage, of which the pathological comparison between the skeletal and the cardiac muscles need furt
Objective To identify the existence and distribution of C9ORF72 hexanucleotide (GGGGCC)repeat expansions as well as the mutation-related clinical phenotypes in the sporadic amyotrophic lateral scleros
Background and purpose Centronuclear myopathy (CNM) is a rare group of clinically and genetically heterogeneous congenital myopathies characterized by numerous muscle fibers with centrally placed nucl
Centronucleus myopathy is a group of congenital myopathy, with the pathological features of the location of the neucleus in the center of the muscle cell.The inheritance can be sex-linked, or autosoma
Objective Autosomal dominant progressive external ophthalmoplegia (adPEO) is a common adult onset disease secondary to nuclear DNA mutation.To date, there has been five genes associated with adPEO.The
Ojective To analyze the clinical characteristics and neuroradiologic feaures of mitochondrialencephalomyopathy with lactic acidosis and stroke-like episodes(MELAS).Methods Systemic study was performed
Objectives o study the clinical manifestations and the features of electron transferring flavoprotein dehydrogenase (ETFDH) gene mutations in 10 patients with riboflavin responsive lipid storage myopa
Objective To investigate the mutation of mitochondrial DNA and activity of respiratory chain complex in Chinese patients with MELAS.Methods 25 patients with MELAS diagnosed by clinical and pathologica