Calpainopathy
Calpainopathy
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钙蛋白病
DOI：
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发表时间：
2007
影响因子：
3.1
通讯作者：
M. Zatz
中科院分区：
文献类型：
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作者：
A. Starling;F. Paula;H. Silva;M. Vainzof;M. Zatz
五名受影响的兄弟姐妹被转诊，根据一名患者的下运动神经元体征（肌肉无力和萎缩、肌张力减退、反射减退或缺乏以及肌束震颤）、正常或临界血清肌酸激酶水平以及肌电图上的神经源性模式（与运动神经元疾病相一致），可能被诊断为近端成人型脊髓性肌萎缩症（SMA）。未发现运动神经元存活基因 (SMN) 外显子 7-8 缺失。连锁分析排除了 SMN 和所有已知的常染色体隐性肢带型肌营养不良基因座，但 LGMD-2A 除外。 calpain-3 基因中的纯合 R769Q 突变和肌肉 calpain-3 蛋白的缺失证实了 calpain 病。该家族表明钙蛋白酶病的临床谱可能更广泛，并且对于患有非典型运动神经元疾病的患者可以考虑这种诊断。
Five affected siblings were referred with a probable diagnosis of proximal adult-type spinal muscular atrophy (SMA) based on lower motor neuron signs (muscle weakness and atrophy, hypotony, hypoactive or absent reflexes, and fasciculations), normal or borderline serum creatine kinase levels, and a neurogenic pattern on electromyography, compatible with motor neuron disease, in one patient. No exon 7–8 deletion in the survival motor neuron (SMN) gene was found. Linkage analysis excluded the SMN and all known autosomal recessivelimb girdle muscular dystrophy loci, with the exception of LGMD-2A. A homozygous R769Q mutation in the calpain-3 gene and absence of muscle calpain-3 protein confirmed a calpainopathy. This family suggests that the clinical spectrum of calpainopathy might be broader and that this diagnosis might be considered in patients with an atypical motor neuron disease.