由SEPN1突变导致的刚性脊柱先天性肌营养不良（RSMD1）

[Rigid spine congenital muscular dystrophy produced by SEPN1 mutations (RSMD1)].

作者信息

Rudenskaia G E, Kadnikova V A, Poliakov A V

出版信息

Zh Nevrol Psikhiatr Im S S Korsakova. 2014;114(5):70-4.

Abstract

RSMD1 is a rare autosomal recessive disorder. Unlike most congenital muscular dystrophies, early motor improvement and normal CPK are typical, while in contrast to structural myopathies there is no specific muscle morphology. Rigid spine, early scoliosis and joint contractures are characteristic. We diagnosed RSMD1 in a 27-year-old Russian female with previous diagnosis of unspecified myopathy. DNA test detected compound heterozygosity for two SEPN1 mutations: already known missence-mutation c.1397G>A (p.Arg466Gln) and novel frame-shift mutation c.683_689dup7 leading to preterm stop-codon.

摘要

RSMD1是一种罕见的常染色体隐性疾病。与大多数先天性肌营养不良不同，其典型特征是早期运动功能改善且肌酸磷酸激酶（CPK）正常，而与结构性肌病相反，不存在特定的肌肉形态学改变。脊柱僵硬、早期脊柱侧弯和关节挛缩是其特征。我们诊断一名27岁的俄罗斯女性患有RSMD1，她之前被诊断为未明确的肌病。DNA检测发现该患者存在两个SEPN1突变的复合杂合性：已知的错义突变c.1397G>A（p.Arg466Gln）和新的移码突变c.683_689dup7，导致提前出现终止密码子。