Objective: To determine the phenotype variability associated with the specific C-terminal M-line titin mutation known to cause autosomal dominant distal myo pathy, tibial muscular dystrophy (TMD; MIM 600334), and limb...Objective: To determine the phenotype variability associated with the specific C-terminal M-line titin mutation known to cause autosomal dominant distal myo pathy, tibial muscular dystrophy (TMD; MIM 600334), and limb girdle muscular dys trophy 2J (LGMD2J). Methods: Three hundred eighty-six individuals were genotype d for the Finnish founder mutation in titin (FINmaj) causing TMD/LGMD2J. Results : Two hundred seven patients were heterozygous for the mutation. Among these pat ients, 189 (91%) had a more common phenotype compatible with the classic descri ption of TMD. However, 18(9%) had unusual phenotypes such as proximal leg or po sterior lower leg muscle weakness and atrophy even at onset.Four patients were c onfirmed homozygotes representing the LGMD2J phenotype. These homozygotes were h alf of the eight LGMD patients previously described in the original large consan guineous kindred. Conclusions: Large variability of phenotypic expression caused by just one mutation, the Finnish FINmaj, suggests that no certain phenotype of myopathy/dystrophy can be excluded from being caused by mutated titin. Yet unkn own homozygous or compound heterozygous titin mutations without phenotype in the heterozygote carriers may be responsible for undetermined recessive MD and LGMD .展开更多
目的探讨1例肢带型肌营养不良2G亚型（limb-girdle muscular dystrophy type 2G，LGMD2G）患者的临床、病理特点及基因突变情况。方法对l例LGMD2G患者进行临床资料收集及骨骼肌病理检查，PCR扩增患者TCAP基因的全部外显子，通过直接测...目的探讨1例肢带型肌营养不良2G亚型（limb-girdle muscular dystrophy type 2G，LGMD2G）患者的临床、病理特点及基因突变情况。方法对l例LGMD2G患者进行临床资料收集及骨骼肌病理检查，PCR扩增患者TCAP基因的全部外显子，通过直接测序检测突变情况，并结合文献进行总结。结果该患者临床表现符合肢带型肌营养不良，骨骼肌病理可见镶边空泡肌纤维，基因检测发现LGMD2G致病基因亿4P基因存在复合杂合突变（c．100delC，c．166insG）。结论LGMD2G的诊断需综合患者临床、病理分析，但最终确诊需结合基因诊断。展开更多
2008477 Diagnostic value of dystrophin in childhood and adolescent muscular disorders. ZHANG Meng(张萌), et al. Dept pathol, 1st Affili Hosp, Sun Yat-sen Univ, Guangzhou 510080.Chin J Nerv Ment Dis 2008;34(5):274-277....2008477 Diagnostic value of dystrophin in childhood and adolescent muscular disorders. ZHANG Meng(张萌), et al. Dept pathol, 1st Affili Hosp, Sun Yat-sen Univ, Guangzhou 510080.Chin J Nerv Ment Dis 2008;34(5):274-277. Objective To explore the diagnostic values of dystrophin immunohistochemical reaction in childhood and adolescent muscular disorders.展开更多
文摘Objective: To determine the phenotype variability associated with the specific C-terminal M-line titin mutation known to cause autosomal dominant distal myo pathy, tibial muscular dystrophy (TMD; MIM 600334), and limb girdle muscular dys trophy 2J (LGMD2J). Methods: Three hundred eighty-six individuals were genotype d for the Finnish founder mutation in titin (FINmaj) causing TMD/LGMD2J. Results : Two hundred seven patients were heterozygous for the mutation. Among these pat ients, 189 (91%) had a more common phenotype compatible with the classic descri ption of TMD. However, 18(9%) had unusual phenotypes such as proximal leg or po sterior lower leg muscle weakness and atrophy even at onset.Four patients were c onfirmed homozygotes representing the LGMD2J phenotype. These homozygotes were h alf of the eight LGMD patients previously described in the original large consan guineous kindred. Conclusions: Large variability of phenotypic expression caused by just one mutation, the Finnish FINmaj, suggests that no certain phenotype of myopathy/dystrophy can be excluded from being caused by mutated titin. Yet unkn own homozygous or compound heterozygous titin mutations without phenotype in the heterozygote carriers may be responsible for undetermined recessive MD and LGMD .
文摘目的探讨1例肢带型肌营养不良2G亚型（limb-girdle muscular dystrophy type 2G，LGMD2G）患者的临床、病理特点及基因突变情况。方法对l例LGMD2G患者进行临床资料收集及骨骼肌病理检查，PCR扩增患者TCAP基因的全部外显子，通过直接测序检测突变情况，并结合文献进行总结。结果该患者临床表现符合肢带型肌营养不良，骨骼肌病理可见镶边空泡肌纤维，基因检测发现LGMD2G致病基因亿4P基因存在复合杂合突变（c．100delC，c．166insG）。结论LGMD2G的诊断需综合患者临床、病理分析，但最终确诊需结合基因诊断。
文摘2008477 Diagnostic value of dystrophin in childhood and adolescent muscular disorders. ZHANG Meng(张萌), et al. Dept pathol, 1st Affili Hosp, Sun Yat-sen Univ, Guangzhou 510080.Chin J Nerv Ment Dis 2008;34(5):274-277. Objective To explore the diagnostic values of dystrophin immunohistochemical reaction in childhood and adolescent muscular disorders.
