González-Pérez Paloma, Gallano Pía, González-Quereda Lidia, Rivas-Infante Eloy, Teijeira Susana, Navarro Carmen, Bautista-Lorite Juan
Neuromuscular Unit, Department of Neurology and Clinical Neurophysiology, University Hospital Virgen del Rocio, Seville, Spain.
J Neurol Sci. 2009 Jan 15;276(1-2):95-8. doi: 10.1016/j.jns.2008.09.009. Epub 2008 Oct 19.
We report a Spanish family affected from a late onset, hand-involved and autosomal dominant distal myopathy associated to Caveolin-3 mutation. Signs of muscle hyperexcitability and hyperckemia were observed in the youngest relatives but not motor symptoms.
Neurological examination was performed in all members of the family. Muscle biopsy sample was taken from the proband and DNA genomics was amplified for the two exons of Cav-3 by the polymerase chain reaction (PCR) in all the affected members and in three asymptomatic relatives.
Signs of muscle hyperexcitability and hyperckemia were observed in the affected members from early ages. Cav-3 expression was greatly reduced in the sarcolemma of the proband's muscle. Genetic studies revealed a G --> A transition at nucleotide position 80 in exon 1 of the Cav-3 gene (c.80G>A), generating a Arg --> Gln change at codon 27 (p.R27Q) of the amino acid chain in heterozygous state, while no mutation was found in unaffected members.
Signs of muscle hyperexcitability and hyperckemia at early ages may predict the development of a late onset autosomal dominant hand-involved myopathy associated to Cav-3 mutation in the family reported herein.
我们报告了一个西班牙家庭，该家庭受一种迟发性、累及手部的常染色体显性遗传性远端肌病影响，此病症与小窝蛋白-3（Caveolin-3）突变相关。在最年轻的亲属中观察到了肌肉兴奋性增高和肌酸激酶升高的迹象，但未出现运动症状。
对该家庭的所有成员进行了神经学检查。从先证者身上采集了肌肉活检样本，并通过聚合酶链反应（PCR）对所有患病成员及三名无症状亲属的Cav-3基因的两个外显子进行了DNA基因组扩增。
在患病成员中从早年起就观察到了肌肉兴奋性增高和肌酸激酶升高的迹象。先证者肌肉的肌膜中Cav-3表达大幅降低。基因研究显示，Cav-3基因第1外显子核苷酸位置80处发生了G→A转换（c.80G>A），导致氨基酸链第27密码子处的精氨酸（Arg）变为谷氨酰胺（Gln）（p.R27Q），呈杂合状态，而在未患病成员中未发现突变。
早年出现的肌肉兴奋性增高和肌酸激酶升高迹象可能预示着本文所报告的该家庭中与Cav-3突变相关的迟发性常染色体显性遗传性累及手部肌病的发展。
