LATE ONSET SCLEROATONIC FAMILIAL MYOPATHY (ULLRICH DISEASE) - A STUDY OF 2 SIBS

被引：3

作者：

RICCI, E ^{[1
]}

BERTINI, E ^{[1
]}

BOLDRINI, R ^{[1
]}

SABATELLI, M ^{[1
]}

SERVIDEI, S ^{[1
]}

MAZZIOTTA, RM ^{[1
]}

BOSMAN, C ^{[1
]}

TONALI, P ^{[1
]}

机构：

[1] BAMBINO GESU HOSP, ROME, ITALY

来源：

AMERICAN JOURNAL OF MEDICAL GENETICS | 1988年 / 31卷 / 04期

关键词：

D O I：

10.1002/ajmg.1320310428

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

We report on sibs with scleroatomic familial myopathy (Ullrich disease). Muscular weakness was of relatively late onset in relation to other cases reported in the literature. Short stature and moderate growth hormone dificiency were noted during follow-up. Differential diagnosis with other neuromuscular disorders, particularly rigid spine syndrome, is discussed.

引用

页码：933 / 942

页数：10

共 32 条

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