Neuromuscular disorders encompass a wide range of conditions often associated with a genetic component. In the present study, we report a patient with severe infantile-onset amyotrophy in whom two compound heterozygous variants in the gene CACNA1H encoding for Ca_v3.2 T-type calcium channels were identified. Functional analysis of Ca_v3.2 variants revealed several alterations of the gating properties of the channel that were in general consistent with a loss-of-channel function. Taken together, these findings suggest that severe congenital amyoplasia may be related to CACNA1H and would represent a new phenotype associated with mutations in this gene.

神经肌肉疾病包括通常与遗传成分有关的多种疾病。在本研究中，我们报告了一名患有严重婴儿期肌萎缩症的患者，其中在编码Ca _v 3.2 T型钙通道的基因CACNA1H中鉴定了两个复合杂合变体。Ca _v 3.2变体的功能分析显示，通道的门控特性发生了几种变化，这些变化通常与通道损失功能一致。综上所述，这些发现表明严重的先天性肌再生不良可能与CACNA1H有关，并且将代表与该基因突变相关的新表型。