CLINICAL AND GENETIC INVESTIGATION IN AUTOSOMAL DOMINANT LIMB-GIRDLE MUSCULAR-DYSTROPHY
CLINICAL AND GENETIC INVESTIGATION IN AUTOSOMAL DOMINANT LIMB-GIRDLE MUSCULAR-DYSTROPHY
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DOI：
10.1212/wnl.38.1.5
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发表时间：
1988-01-01
期刊：
影响因子：
9.9
通讯作者：
ROSES, AD
中科院分区：
文献类型：
--
作者：
GILCHRIST, JM;PERICAKVANCE, M;ROSES, AD
肢带型肌营养不良症是一种进行性肌病性无力综合征，影响肩部和臀部带以及近端手臂和腿部肌肉。该疾病可以是偶发性的，也可以是常染色体隐性遗传。常染色体显性遗传是罕见的。我们报告一个常染色体显性遗传的大家族。16名成员患有一种疾病，其特征为近端无力，腿部大于手臂，在第三个十年发病，CK和CK MB水平升高，肌病肌电图和肌肉活检。连锁分析显示没有决定性的联系。
Limb-girdle muscular dystrophy is a syndrome of progressive myopathic weakness affecting shoulder and hip girdle and proximal arm and leg muscles. The disease occurs either sporadically or inherited as an autosomal recessive trait. Autosomal dominant inheritance is rare. We report a large family with apparent autosomal dominant inheritance. Sixteen members were affected with a disease characterized by proximal weakness, leg greater than arm, onset in the third decade, elevated CK and CK MB levels, and myopathic EMGs and muscle biopsies. Linkage analysis revealed no conclusive linkage.