Publications (2)2.57 Total impact
Article: Mutations in mitochondrially encoded complex I enzyme as the second common cause in a cohort of Chinese patients with mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes.[show abstract] [hide abstract]
ABSTRACT: The mutation pattern of mitochondrial DNA (mtDNA) in mainland Chinese patients with mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes (MELAS) has been rarely reported, though previous data suggested that the mutation pattern of MELAS could be different among geographically localized populations. We presented the results of comprehensive mtDNA mutation analysis in 92 unrelated Chinese patients with MELAS (85 with classic MELAS and 7 with MELAS/Leigh syndrome (LS) overlap syndrome). The mtDNA A3243G mutation was the most common causal genotype in this patient group (79/92 and 85.9%). The second common gene mutation was G13513A (7/92 and 7.6%). Additionally, we identified T10191C (p.S45P) in ND3, A11470C (p. K237N) in ND4, T13046C (p.M237T) in ND5 and a large-scale deletion (13025-13033:14417-14425) involving partial ND5 and ND6 subunits of complex I in one patient each. Among them, A11470C, T13046C and the single deletion were novel mutations. In summary, patients with mutations affecting mitochondrially encoded complex I (MTND) reached 12.0% (11/92) in this group. It is noteworthy that all seven patients with MELAS/LS overlap syndrome were associated with MTND mutations. Our data emphasize the important role of MTND mutations in the pathogenicity of MELAS, especially MELAS/LS overlap syndrome.Journal of Human Genetics 08/2011; 56(11):759-64. · 2.57 Impact Factor
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ABSTRACT: To determine the clinical characteristic and common etiologies of cerebral venous thrombosis (CVT) in China. Clinical and neuroimaging data of 91 cases of CVT were analyzed retrospectively. 91 CVT patients (49 men, 42 women), aged from 9 to 57 years, were diagnosed with MRI (78 cases, 85.71%), MRA (37 cases, 40.66%) or DSA (32 cases, 35.16%). 27 cases (29.67%) had a clinical pattern of isolated intracranial hypertension, 56 cases (61.54%) of focal deficits and/or seizures, 3 cases of subacute encephalopathy and 5 cases of cavernous sinus thrombosis. Oral contraceptive was the most common cause, being found in 12 cases (13.19%). Understanding of the clinical characteristics of CVT and using of MRI and MRA examination as early as possible is the key in CVT diagnosis. Oral contraceptive is the most common etiology.Zhonghua nei ke za zhi [Chinese journal of internal medicine] 10/2002; 41(9):595-8.