Molecular Diagnosis of Limb-girdle Muscular Dystrophy Type 2A by Next-generation Sequencing

Clara Gómez-González; Maria Isabel Esteban-Rodríguez; Yolanda Ruano; Elena Vallespín; Pablo Lapunzina; Paloma Martínez; Samuel I. Pascual; Jesús Molano; Carmen Prior

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Molecular Diagnosis of Limb-girdle Muscular Dystrophy Type 2A by Next-generation Sequencing

机译：新一代测序技术对2A型腰带型肌营养不良症的分子诊断

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《Annals of Indian Academy of Neurology》 |2017年第2期|共2页
作者
Clara Gómez-González; Maria Isabel Esteban-Rodríguez; Yolanda Ruano; Elena Vallespín; Pablo Lapunzina; Paloma Martínez; Samuel I. Pascual; Jesús Molano; Carmen Prior;
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中图分类神经病学;
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1. Next-generation sequencing identified a novel DYSF variant in a patient with limb-girdle muscular dystrophy type 2B: A case report [J] . Li Qiao BS, Tan Cheng Master degree, Chen Jiajun, Medicine. . 2020,第41期

机译：下一代测序鉴定了肢体腰带肌营养不良症2B型患者的新型DYSF变体：案例报告
2. Epidemiological and Molecular Characterization of a Mexican Population Isolate with High Prevalence of Limb-Girdle Muscular Dystrophy Type 2A Due to a Novel Calpain-3 Mutation [J] . Carlos A. Pantoja-Melendez, Antonio Miranda-Duarte, Bladimir Roque-Ramirez, PLoS One . 2017,第1期

机译：墨西哥人口分离株的流行性和分子特征，由于新的钙蛋白酶3突变的2A型肢带性肌营养不良症的高患病率。
3. Epidemiological and Molecular Characterization of a Mexican Population Isolate with High Prevalence of Limb-Girdle Muscular Dystrophy Type 2A Due to a Novel Calpain-3 Mutation [J] . Carlos A. Pantoja-Melendez, Antonio Miranda-Duarte, Bladimir Roque-Ramirez, PLoS One . 2017,第1期

机译：墨西哥人口分离株的流行性和分子特征，由于新的钙蛋白酶3突变的2A型肢带性肌营养不良症的高患病率。
4. Duchenne muscular dystrophy: from gene diagnosis to molecular therapy [C] . M. Matsuo, M. Yagi, Y. Yamauchi, Korean Child Neurology Society Congress . 2009

机译：Duchenne肌营养不良：从基因诊断到分子治疗
5. Assessing the Therapeutic Potential of CRISPR/Cas9-Mediated Gene Modulation in Merosin-Deficient Congenital Muscular Dystrophy Type 1A [D] . Bassi, Prabhpreet Singh 2017

机译：评估CRISPR / Cas9介导的肌球蛋白缺陷型先天性肌营养不良1A型的治疗潜力。
6. Multiple independent molecular etiology for limb-girdle muscular dystrophy type 2A patients from various geographical origins. [O] . I Richard, L Brenguier, P Dinçer, 1997

机译：来自不同地理位置的肢带型肌营养不良症2A型患者的多种独立分子病因学。
7. Molecular diagnosis of limb-girdle muscular dystrophy type 2A by next-generation sequencing [O] . Clara Gómez-González, Maria Isabel Esteban-Rodríguez, Yolanda Ruano, 2017

机译：下一代测序分析诊断2a型肢带型肌营养不良症

Molecular Diagnosis of Limb-girdle Muscular Dystrophy Type 2A by Next-generation Sequencing

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