无远端肌病和LGMD2J表现的肌联蛋白病和M线突变表型范围

作     者：Udd B. Vihola A. Sarparanta J. 高方 

作者机构：Department of Neurology Vaasa Central Hospital FIN-65130 Vaasa Finland Dr. 

出 版 物：《世界核心医学期刊文摘（神经病学分册）》 (Digest of the World Core Medical Journals:Clinical Neurology)

年 卷 期：2005年第1卷第7期

页      面：45-45页

学科分类：1002[医学-临床医学] 100204[医学-神经病学] 10[医学] 

主　　题：远端肌 LGMD2J M线 肌联蛋白 dystrophy 肌营养不良 myopathy muscular phenotype phenotypic 

摘      要：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 *** 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 .