ASYMPTOMATIC BECKER MUSCULAR DYSTROPHY IN A FAMILY WITH A MULTIEXON DELETION

被引：49

作者：

Ferreiro, Veronica ^{[1
]}

Giliberto, Florencia ^{[2
]}

Noelia Muniz, Garcia M. ^{[2
]}

Francipane, Liliana ^{[1
]}

Marzese, Diego M. ^{[3
]}

Mampel, Alejandra ^{[4
]}

Roque, Maria ^{[3
]}

Frechtel, Gustavo D. ^{[1
]}

Szijan, Irene ^{[2
]}

机构：

[1] Univ Buenos Aires, Clin Hosp Jose de San Martin, Div Genet, RA-1120 Buenos Aires, DF, Argentina

[2] Univ Buenos Aires, Fac Pharm & Biochem, Dept Genet & Mol Biol, RA-1120 Buenos Aires, DF, Argentina

[3] Natl Univ Cuyo, Fac Med Sci, Dept Cellular & Mol Biol, Mendoza, Argentina

[4] Natl Univ Cuyo, Fac Med Sci, Inst Med Genet, Mendoza, Argentina

来源：

MUSCLE & NERVE | 2009年 / 39卷 / 02期

关键词：

asymptomatic DMD/BMD; multiple-exon skipping; DMD molecular diagnosis; DMD gene therapy; antisense; DMD; DUCHENNE;

D O I：

10.1002/mus.21193

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

We report a Becker muscular dystrophy (BMD) family with one 5-year-old affected patient and a 69-year-old asymptomatic grandfather. Dystrophin gene multiplex polymerase chain reaction and multiplex ligation-dependant probe amplification analysis showed that both males carried an in-frame deletion of exons 45-55. Segregation analysis revealed two additional asymptomatic boys in this family. Our finding supports previous predictions that exons 45-55 are the optimal multiexon skipping target in antisense gene therapy to transform the severe Duchenne muscular dystrophy into the milder BMD, or even asymptomatic, phenotype.

引用

页码：239 / 243

页数：5

共 13 条

[1] Multiexon skipping leading to an artificial DMD protein lacking amino acids from exons 45 through 55 could rescue up to 63 % of patients with Duchenne muscular dystrophy [J].