Congenital neurogenic muscular atrophy in megaconial myopathy due to a mutation in CHKB gene (vol 38, pg 167, 2016)

Castro-Gago Manuel; Dacruz-Alvarez David; Pintos-Martinez Elena; Beiras-Iglesias Andres; Arenas Joaquin; Angel Martin Miguel; Martinez-Azorin Francisco

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Congenital neurogenic muscular atrophy in megaconial myopathy due to a mutation in CHKB gene (vol 38, pg 167, 2016)

机译：CHKB基因突变导致巨圆锥肌病的先天性神经源性肌肉萎缩（第38卷，第167页，2016年）

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《Brain & Development 》 |2016年第8期| 共1页
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Castro-Gago Manuel; Dacruz-Alvarez David; Pintos-Martinez Elena; Beiras-Iglesias Andres; Arenas Joaquin; Angel Martin Miguel; Martinez-Azorin Francisco;
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中图分类神经病学与精神病学 ;
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1. Congenital neurogenic muscular atrophy in megaconial myopathy due to a mutation in CHKB gene (vol 38, pg 167, 2016) [J] . Castro-Gago Manuel, Dacruz-Alvarez David, Pintos-Martinez Elena, Brain & Development . 2016 ,第8期

机译：CHKB基因突变导致巨圆锥肌病的先天性神经源性肌肉萎缩（第38卷，第167页，2016年）
2. Proximal myopathy with focal depletion of mitochondria and megaconial congenital muscular dystrophy are allelic conditions caused by mutations in CHKB [J] . Brady L., Giri M., Provias J., Neuromuscular disorders: NMD . 2016 ,第2期

机译：近端肌病伴线粒体局灶性消耗和巨圆锥先天性肌营养不良是CHKB突变引起的等位基因病
3. Alteration of mitochondrial membrane inner potential in three Italian patients with megaconial congenital muscular dystrophy carrying new mutations in CHKB gene [J] . Marchet Silvia, Invernizzi Federica, Blasevich Flavia, Mitochondrion . 2019 ,第期

机译：三种意大利先天性肌营养不良患者的线粒体膜内部电位的改变携带CHKB基因新突变
4. A Novel Approach to Gene Analysis: Gene Panels and Cluster Definition to Assist Genotyping Patients with Congenital Myopathies [C] . Marco Calderisi, Ilaria Ceppa, Denise Cassandrini, International Joint Conference on Biomedical Engineering Systems and Technologies . 2019

机译：基因分析的一种新方法：基因面板和聚类定义，以协助先天性肌病的基因分型患者
5. Characterizing the effect of mutations within exon 7 of the murine survival motor neuron gene to model spinal muscular atrophy in the mouse. [D] . Hammond, Suzan Michelle. 2010

机译：表征小鼠存活运动神经元基因外显子7内突变对小鼠脊髓性肌萎缩模型的影响。
6. Mutations in Subunits of the Activating Signal Cointegrator 1 Complex Are Associated with Prenatal Spinal Muscular Atrophy and Congenital Bone Fractures [O] . Ellen Knierim, Hiromi Hirata, Nicole I. Wolf, 2016

机译：激活信号协整器1复杂的亚基的突变与产前脊髓性肌萎缩和先天性骨骨折相关。
7. Corrigendum to “Congenital neurogenic muscular atrophy in megaconial myopathy due to a mutation in CHKB gene” Brain Dev. 38 (2016) 167–172 [O] . Manuel Castro-Gago, David Dacruz-Alvarez, Elena Pintos-Martínez, 2016

机译：“巨大神经神经病变中先天性神经源性肌萎缩引起的突变，CHKB基因突变”的勘探脑开发。 38（2016）167-172

Congenital neurogenic muscular atrophy in megaconial myopathy due to a mutation in CHKB gene (vol 38, pg 167, 2016)

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