FAMILIAL INCLUSION BODY MYOSITIS - EVIDENCE FOR AUTOSOMAL DOMINANT INHERITANCE

被引:56
作者
NEVILLE, HE
BAUMBACH, LL
RINGEL, SP
RUSSO, LS
SUJANSKY, E
GARCIA, CA
机构
[1] UNIV FLORIDA,HLTH SCI CTR,DEPT NEUROL,GAINESVILLE,FL 32611
[2] UNIV COLORADO,SCH MED,DEPT PEDIAT,DENVER,CO 80202
[3] VET ADM MED CTR,NEUROL SERV,DENVER,CO 80220
[4] UNIV MIAMI,SCH MED,DEPT PEDIAT,DIV GENET,MIAMI,FL 33152
[5] LOUISIANA STATE UNIV,MED CTR,DEPT NEUROL,NEW ORLEANS,LA 70112
[6] LOUISIANA STATE UNIV,MED CTR,DEPT PATHOL,NEW ORLEANS,LA 70112
关键词
D O I
10.1212/WNL.42.4.897
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 kindred manifesting clinical features and muscle biopsy findings of inclusion body myositis (IBM). In this family, multiple members were affected in two generations with direct male-to-male and female-to-male transmission. This is the first reported instance of autosomal dominant inheritance in IBM, which usually occurs sporadically or, rarely, may be transmitted as an autosomal recessive disorder.
引用
收藏
页码:897 / 902
页数:6
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