POLYGLUCOSAN BODY MYOPATHY - A NEW CASE

被引：11

作者：

TONIN, P ^{[1
]}

TOMELLERI, G ^{[1
]}

VIO, M ^{[1
]}

RIZZUTO, N ^{[1
]}

机构：

[1] UNIV VERONA, INST NEUROL, I-37100 VERONA, ITALY

来源：

NEUROMUSCULAR DISORDERS | 1992年 / 2卷 / 5-6期

关键词：

MYOPATHY; POLYGLUCOSAN; BRANCHING ENZYME;

D O I：

10.1016/S0960-8966(06)80014-3

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

We report a 51-yr-old woman with late-onset progressive weakness affecting proximal limb muscles. Muscle biopsy revealed a vacuolar myopathy with accumulation of amylopectin-like polysaccharide resembling the polyglucosan found in type IV glycogenosis and adult-onset polyglucosan body disease. A biochemical study ruled out specific enzymatic defects known to cause storage of this abnormal material. Our case confirms the existence of a 'polyglucosan body myopathy' as a distinct clinicopathological entity in which the biochemical defect is unknown.

引用

页码：419 / 422

页数：4

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