EARLY-ONSET BENIGN LIMB-GIRDLE MYOPATHY WITH CONTRACTURES AND FACIAL INVOLVEMENT AFFECTING A FATHER AND DAUGHTER

被引：5

作者：

MALANDRINI, A

SCARPINI, C

FABRIZI, GM

PARROTTA, E

SALVADORI, C

GUAZZI, GC

机构：

[1] Institute of Neurological Sciences, University of Siena, I-53100 Siena

来源：

JOURNAL OF THE NEUROLOGICAL SCIENCES | 1995年 / 132卷 / 02期

关键词：

BETHLEM MYOPATHY; FACIAL MUSCLE; WEAKNESS; MUSCLE BIOPSY;

D O I：

10.1016/0022-510X(95)00156-V

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

We describe a father and daughter with early-onset benign limb-girdle myopathy and contractures of elbows and hands, resembling Bethlem disease. Muscle biopsy showed a pattern of dystrophy with non specific mitochondrial changes. In both patients there was unusual facial muscle weakness. We discuss the nosological position of Bethlem myopathy and suggest that facial involvement may be an additional feature of this disease.

引用

页码：195 / 200

页数：6

共 17 条

[1] FURTHER INVESTIGATIONS ON BENIGN MYOPATHY WITH AUTOSOMAL DOMINANT INHERITANCE [J].