Early and severe presentation of autosomal dominant Emery-Dreifuss muscular dystrophy (EMD2)

被引：12

作者：

Mercuri, E

Manzur, AY

Jungbluth, H

Bonne, G

Muchir, A

Sewry, C

Schwartz, K

Muntoni, F

机构：

[1] Hammersmith Hosp, Dept Paediat, Imperial Coll Sch Med, London W12 0HN, England

[2] Hammersmith Hosp, Dubowitz Neuromuscular Ctr, Imperial Coll Sch Med, London W12 0HN, England

[3] GH Pitie Salpetriere, INSERM UR 153, Paris, France

[4] NE Wales Inst, MRIC Biochem Grp, Plas Coch Wrexham, Wales

来源：

NEUROLOGY | 2000年 / 54卷 / 08期

关键词：

D O I：

10.1212/WNL.54.8.1704

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

引用

页码：1704 / 1705

页数：2

共 7 条

[1]

Mutations in the gene encoding lamin A/C cause autosomal dominant Emery-Dreifuss muscular dystrophy [J].

Bonne, G ;

Di Barletta, MR ;

Varnous, S ;

Bécane, HM ;

Hammouda, EH ;

Merlini, L ;

Muntoni, F ;

Greenberg, CR ;

Gary, F ;

Urtizberea, JA ;

Duboc, D ;

Fardeau, M ;

Toniolo, D ;

Schwartz, K .

NATURE GENETICS, 1999, 21 (03) :285-288

[2]

EMERY AEH, 1987, CLIN GENET, V32, P360

[3]

AN AUTOSOMAL-DOMINANT DYSTROPHY WITH HUMEROPELVIC DISTRIBUTION AND CARDIOMYOPATHY [J].

FENICHEL, GM ;

SUL, YC ;

KILROY, AW ;

BLOUIN, R .

NEUROLOGY, 1982, 32 (12) :1399-1401

[4]

EMERY-DREIFUSS MUSCULAR-DYSTROPHY - REPORT OF 5 CASES IN A FAMILY AND REVIEW OF THE LITERATURE [J].

MERLINI, L ;

GRANATA, C ;

DOMINICI, P ;

BONFIGLIOLI, S .

MUSCLE & NERVE, 1986, 9 (06) :481-485

[5]

EMERY-DREIFUSS MUSCULAR-DYSTROPHY WITH AUTOSOMAL DOMINANT TRANSMISSION [J].

MILLER, RG ;

LAYZER, RB ;

MELLENTHIN, MA ;

GOLABI, M ;

FRANCOZ, RA ;

MALL, JC .

NEUROLOGY, 1985, 35 (08) :1230-1233

[6]

Early presentation of X-linked Emery-Dreifuss muscular dystrophy resembling limb-girdle muscular dystrophy [J].

Muntoni, F ;

Lichtarowicz-Krynska, EJ ;

Sewry, CA ;

Manilal, S ;

Recan, D ;

Llense, S ;

Taylor, J ;

Morris, GE ;

Dubowitz, V .

NEUROMUSCULAR DISORDERS, 1998, 8 (02) :72-76

[7]

The Emery-Dreifuss Muscular Dystrophy Mutation Database [J].

Yates, JRW ;

Wehnert, M .

NEUROMUSCULAR DISORDERS, 1999, 9 (03) :199-199

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