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OBJECTIVE To report the clinical features of mitochondrial disease caused by mitochondrial DNA (mtDNA) A8344G point mutation. METHODS We analyzed the clinical presentations and muscular pathological changes in 10 patients with genetically confirmed mtDNA A8344G point mutation. RESULTS Among them, 6 patients presented as juvenile-onset myoclonic epilepsy(More)
OBJECTIVE To investigate the immunopathological changes of micro-vessels in dermatomyositis. METHODS Twelve patients with dermatomyositis, 5 males and 7 females, aged 40.8 (6 - 72), underwent muscle biopsy of biceps muscle of arm (n = 11) or deltoid muscle (n = 1). The specimens underwent routine histological, enzyme histochemical, and immunohistochemical(More)
OBJECTIVE To compare the clinical characteristics of riboflavin responsive lipid storage myopathy (RR-LSM) versus polymyositis (PM). METHODS The clinical data were collected and analyzed for 26 RR-LSM and 15 PM patients from 2003 to 2011 at Peking University First Hospital . RESULTS The mean onset ages of RR-LSM and PM were (29 ± 10) and (43 ± 15) years(More)
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