Limb-girdle muscular dystrophy related to LAMA2 mutations: an unusual familial coincidence responsible for the phenotypic variability and diagnostic difficulties

Guillet-Pichon V.; Leturcq F.; Claeys K.; Beroud C.; Nadaj-Pakleza A.

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Limb-girdle muscular dystrophy related to LAMA2 mutations: an unusual familial coincidence responsible for the phenotypic variability and diagnostic difficulties

机译：与喇嘛2突变相关的肢体肌肌营养不良：对表型变异性和诊断困难负责的不寻常的家庭巧合

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《Neuromuscular disorders: NMD》 |2017年第2期|共1页
作者
Guillet-Pichon V.; Leturcq F.; Claeys K.; Beroud C.; Nadaj-Pakleza A.;
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作者单位

CHU Angers Serv Neurol Ctr Reference Malad Neuromusculaires Nantes Anger Angers France;

Hop Cochin Serv Genet &

Biol Mol Batiment Jean Dausset Paris France;

Katholieke Univ Leuven Dept Neurosci Expt Neurol Lab Muscle Dis &

Neuropathies Leuven Belgium;

Hop Timone Enfants Lab Genet Mol Marseille France;

CHU Angers Serv Neurol Ctr Reference Malad Neuromusculaires Nantes Anger Angers France;

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原文格式 PDF
正文语种 eng
中图分类神经病学;
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1. Limb-girdle muscular dystrophy related to LAMA2 mutations: an unusual familial coincidence responsible for the phenotypic variability and diagnostic difficulties [J] . Guillet-Pichon V., Leturcq F., Claeys K., Neuromuscular disorders: NMD . 2017,第Suppla2期

机译：与喇嘛2突变相关的肢体肌肌营养不良：对表型变异性和诊断困难负责的不寻常的家庭巧合
2. Diagnostic difficulties in muscular dystrophy due to LAMA2 mutations - A case report of affected father and his son [J] . Haberlova J., Barresi R., Fajkusova L. Neuromuscular disorders: NMD . 2015,第Suppla2期

机译：LAMA2突变导致肌肉营养不良的诊断困难-受影响的父亲和儿子的一例报告
3. Limb girdle muscular dystrophy due to LAMA2 mutations: Diagnostic difficulties due to associated peripheral neuropathy [J] . ChanS.H.S., FoleyA.R., PhadkeR., Neuromuscular disorders: NMD . 2014,第8期

机译：LAMA2突变引起的下肢带状肌营养不良：由于相关的周围神经病变而造成的诊断困难
4. Diffusion and Ideal MRI techniques to characterize Limb-Girdle Muscular Dystrophy [C] . Hernandez-Salazar G, Hidalgo-Tobon S, Vargas-Canas S, Mexican Symposium on Medical Physics . 2012

机译：扩散和理想的MRI技术，表征肢体肌营养不良症
5. DYRK1A Haploinsufficiency as a Subtype of ASD: Phenotypic Presentation and the Role of Parental Phenotype in Accounting for Variability in Individuals with ASD and Disruptive DYRK1A Mutations [D] . Earl, Rachel Kincade. 2018

机译：Dyrk1a Haploinfcuity作为ASD的亚型：表型呈现和父母表型在核查中核算中的变异性和破坏性Dyrk1a突变的作用
6. Familial association of genetic generalised epilepsy with limb-girdle muscular dystrophy through a mutation in CAPN3 [O] . Alejandro Viloria-Alebesque, Elena Bellosta-Diago, Sonia Santos-Lasaosa, 2019

机译：通过CAPN3突变遗传性全身性癫痫与肢带型肌营养不良症的家族关联
7. Familial association of genetic generalised epilepsy with limb-girdle muscular dystrophy through a mutation in CAPN3 [O] . Alejandro Viloria-Alebesque, Elena Bellosta-Diago, Sonia Santos-Lasaosa, 2019

机译：通过CAPN3中的突变通过突变与肢体腰带肌营养不良的家族性协会

Limb-girdle muscular dystrophy related to LAMA2 mutations: an unusual familial coincidence responsible for the phenotypic variability and diagnostic difficulties

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