Emery-Dreifuss muscular dystrophy type 4: A new SYNE1 mutation associated with hypertrophic cardiomyopathy masked by a perinatal distress-related spastic diplegia

被引：9

作者：

Sandra, Mastroianno ^{[1
]}

Pia, Leone Maria ^{[2
]}

Stefano, Castellana ^{[3
]}

Pietro, Palumbo ^{[2
]}

Crociani, Paola ^{[4
]}

Aldo, Russo ^{[1
]}

Giuseppe, Di Stolfo ^{[1
]}

Massimo, Carella ^{[2
]}

机构：

[1] Fdn IRCCS Casa Sollievo Sofferenza, Cardiovasc Dept, Viale Cappuccini 1, I-71013 San Giovanni Rotondo, FG, Italy

[2] Fdn IRCCS Casa Sollievo Sofferenza, Clin Genet Unit, San Giovanni Rotondo, Italy

[3] Fdn IRCCS Casa Sollievo Sofferenza, Bioinformat Unit, San Giovanni Rotondo, Italy

[4] Fdn IRCCS Casa Sollievo Sofferenza, Neurol Unit, San Giovanni Rotondo, Italy

来源：

CLINICAL CASE REPORTS | 2019年 / 7卷 / 05期

关键词：

Emery-Dreifuss muscular dystrophy type 4; hypertrophic cardiomyopathy; SYNE1; mutation; NESPRIN-1; DATABASE;

D O I：

10.1002/ccr3.2140

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

Hypertrophic cardiomyopathy could be part of a more complex syndrome like Emery-Dreifuss muscular dystrophy type 4. Genetic analysis allowed to identify a de novo heterozygous missense mutation in SYNE1 gene (chr6:152665253:G > C), supporting physician to reach a correct diagnosis in patient affected by cardiomyopathy associated with a difficult clinical scenario.

引用

页码：1078 / 1082

页数：5

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