Abstract：
UNASSIGNED: Dystrophinopathies result from mutations to the DMD gene. We report 5 boys in 3 families with heterogenous phenotypes due to a point mutation in the DMD gene: a hemizygous tyrosine-to-cysteine change in exon 15 (c.1724T>C) resulting in an amino acid substitution of leucine to proline at codon 575. This mutation has been reported before, with at least 3 prior patients presenting with similar clinical findings of myalgia, myoglobinuria, and occasional muscle cramping. The mutation on DMD c.1724T>C (p.Leu575Pro) is listed in the Clinvar database as a variant of unknown significance. Our report provides contributing evidence that this alteration should be classified as pathogenic.
摘要：
未经证实：肌养蛋白病是由DMD基因突变引起的。我们报告了3个家庭中的5个男孩，由于DMD基因的点突变而具有异质性表型：外显子15中的半合子酪氨酸到半胱氨酸的变化（c.1724T>C）导致亮氨酸的氨基酸替换为脯氨酸在密码子575处。这种突变以前就有报道,至少有3名先前患者表现出类似的肌痛临床表现，肌红蛋白尿症,偶尔肌肉抽筋.DMD上的突变c.1724T>C（p。Leu575Pro）在Clinvar数据库中列为未知意义的变体。我们的报告提供了有益的证据，表明这种改变应被归类为致病性。
