Carboni Nicola, Mura Marco, Marrosu Giovanni, Cocco Eleonora, Ahmad Mohammad, Solla Elisabetta, Mateddu Anna, Maioli Maria Antonietta, Marini Stefano, Nissardi Vincenzo, Frau Jessica, Mallarini Giorgio, Mercuro Giuseppe, Marrosu Maria Giovanna
Neuromuscular Unit, Dipartimento di Scienze Cardiovascolari e Neurologiche, University of Cagliari, Cagliari, Italy.
Neuromuscul Disord. 2008 Apr;18(4):291-8. doi: 10.1016/j.nmd.2008.01.009. Epub 2008 Mar 11.
The case of a family in which several members displayed conduction defects inherited as a dominant trait is reported. The proband was a young woman with a 1st degree atrio-ventricular block and high serum creatine kinase. Several members of the family featured cardiologic symptoms. All adult family members were clinically evaluated and blood tests including serum creatine-kinase levels, standard and Holter ECG, echocardiogram and muscle MRI were performed. LMNA gene analysis was carried out and a novel missense mutation consisting in substitution of exon 4 c.799 T/C, p.Tyr267His was revealed. The mutation was present in seven family members, five of whom displayed cardiac defects alone with no involvement of the skeletal muscle. In all mutated individuals muscle MRI featured a pattern of skeletal muscle involvement similar to that observed in autosomal dominant Emery Dreifuss muscular dystrophy, suggesting that even patients bearing a LMNA gene mutation associated to an apparently selective cardiac phenotype may present subclinical skeletal muscle involvement.
报道了一个家族的病例，该家族中几名成员表现出作为显性性状遗传的传导缺陷。先证者是一名年轻女性，患有一度房室传导阻滞和高血清肌酸激酶。该家族的几名成员有心脏症状。对所有成年家庭成员进行了临床评估，并进行了血液检查，包括血清肌酸激酶水平、标准心电图和动态心电图、超声心动图以及肌肉磁共振成像。进行了LMNA基因分析，发现了一个新的错义突变，即外显子4的c.799 T/C替换，p.Tyr267His。该突变存在于七名家族成员中，其中五名仅表现出心脏缺陷，骨骼肌未受累。在所有突变个体中，肌肉磁共振成像显示出与常染色体显性遗传性埃默里-德赖富斯肌营养不良中观察到的骨骼肌受累模式相似，这表明即使携带与明显选择性心脏表型相关的LMNA基因突变的患者也可能存在亚临床骨骼肌受累。
