开放期刊系统

SGCG 突变致肢带型肌营养不良 2C 型 1 例

李 红, 刘 含兴

摘要

9岁男性患儿,因“乏力半年”就诊,半年来无明显诱因出现乏力、爬梯时明显,近1月来乏力加重,严重时跪地,几秒内缓解。谷丙转氨酶、谷草转氨酶、乳酸脱氢酶和肌酸激酶均明显升高。通过全外显子检测技术发现SGCG基因存在致病性纯合突变c.320C>T(p.S107L),最终确诊为肢带型肌营养不良2C型。国际上尚罕见该突变位点病例报道,对了解该病遗传特征的种族特异性、流行病学、临床特征等提供了参考依据。

关键词

肢带型肌营养不良;乏力;高肌酸激酶;SGCG基因;罕见病

全文:

PDF

参考

[1]Guglieri,M,Magri,F,D’angelo,MG,et al.(2008). Clinical,molecular,and protein correlations in a large sample of genetically

diagnosed Italian limb girdle muscular dystrophy patients. Human Mutation[J],29(2),258–266.

[2]Guglieri,M,Straub,V,Bushby,K,et al.(2008). Limb–girdle muscular dystrophies. Current Opinion in Neurology[J],21

(5),576–584.

[3]Gilchrist,JM,Pericak‐Vance,M,Silverman,L,et al.(1988).Clinical and genetic investigation in autosomal dominant limb

‐girdle muscular dystrophy[J]. Neurology,38(1),5–5.

[4]Inashkina,I,Jankevics,E,Stavusis,J,et al.(2016). Robust genotyping tool for autosomal recessive type of limb‐girdle muscular

dystrophies[J]. BMC Musculoskeletal Disorders,17(1),200.

[5]Wallace,LM,Giesige,CR,Griffin,DA,et al.(2016). RNAi therapy for dominant limb girdle muscular dystrophy type 1A[J]. Molecular

Therapy,24,S248.

[6]Pambianco,S,Giovarelli,M,Perrotta,C,et al.(2016). Reversal of defective mitochondrial biogenesis in limb‐girdle muscular dystrophy

2D by independent modulation of histone and PGC‐1α acetylation[J]. Cell Reports,17(11),3010–3023.

[7]Nigro,V,& Savarese,M.(2014). Genetic basis of limb‐girdle muscular dystrophies:The 2014 update[J]. Acta Myologica,33

(1),1–12.


(6 摘要 Views, 12 PDF Downloads)

Refbacks

  • 当前没有refback。