Both, recessive (LGMD R1) and dominant (LGMD D4) inheritance occur in calpain 3-related muscular dystrophy. We report a family with calpain-related muscular dystrophy caused by two known variants in the calpain 3 gene (CAPN3, NM_000070.3; (I) c.700G>A, p.Gly234Arg and (II) c.1746-20C>G, p.?). Three family members are compound heterozygous and exhibit a relatively homogeneous phenotype characterized by progressive proximal weakness starting in the third to fourth decade of life in the shoulder girdle and spreading to the legs. Two family members affected only by the p.Gly234Arg heterozygous missense variants show a different phenotype characterized by severe exertional myalgia without overt pareses. We conclude that in our family, the missense variant causes a severe myalgic phenotype without pareses that is aggravated by the second intronic variant and put these findings in the context of previous studies of the same variants.

隐性遗传 (LGMD R1) 和显性遗传 (LGMD D4) 均发生在钙蛋白酶 3 相关的肌营养不良症中。我们报告了一个患有钙蛋白酶相关性肌营养不良症的家庭，该家族由钙蛋白酶 3 基因中的两种已知变异引起（CAPN3，NM_000070.3；(I) c.700G>A，p.Gly234Arg 和 (II) c.1746-20C>G ，页？）。三个家族成员是复合杂合子，并表现出相对同质的表型，其特征是从三岁到四十岁开始肩带进行性近端无力并蔓延到腿部。仅受 p.Gly234Arg 杂合错义变异影响的两个家族成员表现出不同的表型，其特征是严重的劳力性肌痛，但没有明显的麻痹。我们得出的结论是，在我们的家族中，错义变异导致严重的肌痛表型，但没有麻痹，第二个内含子变异会加剧这种表型，并将这些发现放在先前对相同变异的研究的背景下。