Autosomal dominant limb-girdle muscular dystrophy associated with conduction defects (LGMD1B):: a description of 8 new families with the LMNA gene mutations.

被引:18
作者
Ben Yaou, R
Bécane, HM
Demay, L
Laforet, P
Hannequin, D
Bohu, PA
Drouin-Garraud, V
Ferrer, X
Mussini, JM
Ollagnon, E
Petiot, P
Penisson-Besnier, I
Streichenberger, N
Toutain, A
Richard, P
Eymard, B
Bonne, G
机构
[1] CHU Pitie Salpetriere, Inst Myol, INSERM, U582, F-75651 Paris 13, France
[2] CHU Pitie Salpetriere, Serv Biochim B, UF Myogenet & Cardiogenet, F-75651 Paris 13, France
[3] CHU Rouen, Hop Charles Nicolle, Serv Genet, Rouen, France
[4] Clin St Hilaire, Rouen, France
[5] CHU Bordeaux, Neurol Serv, Bordeaux, France
[6] CHU Nantes, Serv Anat Pathol A, F-44035 Nantes 01, France
[7] Hop Croix Rousse, F-69317 Lyon, France
[8] CHU Angers, Hop Larrey, Dept Neurol, Angers, France
[9] Hop Neurol & Neurochirurg P Wertheimer, Serv Neuropathol, Lyon, France
[10] CHU Tours, Hop Bretonneau, Serv Genet, Tours, France
关键词
LGMD1B; LMNA; lamins A/C; sudden death;
D O I
10.1016/S0035-3787(05)84972-0
中图分类号
R74 [神经病学与精神病学];
学科分类号
摘要
Introduction. Limb girdle muscular dystrophy type 1b (LGMD1B), due to LMNA gene mutations, is a relatively rare form of LGMD characterized by proximal muscle involvement associated with heart involvement comprising atrio-ventricular conduction blocks and dilated cardiomyopathy. Its clinical and genetic diagnosis is crucial for cardiac management and genetic counselling. Seven LMNA mutations have been previously reported to be responsible for LGMD1B. Patients and methods. We describe the neurological and cardiologic features of 14 patients belonging to 8 families in whom we identified 6 different LMNA mutations, 4 of them having never been reported. Results. Eleven patients had an LGMD1B phenotype with scapulohumeral and pelvic-femoral involvement. Thirteen patients had cardiac disease associating conduction defects (12 patients) or arrhythmias (9 patients). Seven patients needed cardiac device (pacemaker or implantable cardiac defibrillator) and two had heart transplantation. Conclusion. This study allowed us to specify the clinical characteristics of this entity and to outline the first phenotype/genotype relations resulting from these observations.
引用
收藏
页码:42 / 54
页数:13
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