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Novel CAPN3 variant associated with an autosomal dominant calpainopathy
Neuropathology and Applied Neurobiology ( IF 4.0 ) Pub Date : 2020-06-10 , DOI: 10.1111/nan.12624 M Cerino 1, 2, 3 , E Campana-Salort 1, 4 , A Salvi 1 , P Cintas 5 , D Renard 6 , R Juntas Morales 7, 8 , C Tard 9, 10 , F Leturcq 11 , T Stojkovic 12 , N Bonello-Palot 1, 2 , S Gorokhova 1, 2 , J Mortreux 1, 2 , A Maues De Paula 1, 13 , N Lévy 1, 2 , J Pouget 4 , M Cossée 7, 14 , M Bartoli 1 , M Krahn 1, 2 , S Attarian 1, 4
Neuropathology and Applied Neurobiology ( IF 4.0 ) Pub Date : 2020-06-10 , DOI: 10.1111/nan.12624 M Cerino 1, 2, 3 , E Campana-Salort 1, 4 , A Salvi 1 , P Cintas 5 , D Renard 6 , R Juntas Morales 7, 8 , C Tard 9, 10 , F Leturcq 11 , T Stojkovic 12 , N Bonello-Palot 1, 2 , S Gorokhova 1, 2 , J Mortreux 1, 2 , A Maues De Paula 1, 13 , N Lévy 1, 2 , J Pouget 4 , M Cossée 7, 14 , M Bartoli 1 , M Krahn 1, 2 , S Attarian 1, 4
Affiliation
The most common autosomal recessive limb girdle muscular dystrophy is associated with the CAPN3 gene. The exclusively recessive inheritance of this disorder has been recently challenged by the description of the recurrent variants, c.643_663del21 [p.(Ser215_Gly221del)] and c.598_612del15 [p.(Phe200_Leu204del)], associated with autosomal dominant inheritance. Our objective was to confirm the existence of autosomal dominant calpainopathies.
中文翻译：
与常染色体显性显性钙蛋白酶病相关的新型 CAPN3 变异
最常见的常染色体隐性肢带肌营养不良症与 CAPN3 基因有关。这种疾病的完全隐性遗传最近受到与常染色体显性遗传相关的复发变异 c.643_663del21 [p.(Ser215_Gly221del)] 和 c.598_612del15 [p.(Phe200_Leu204del)] 的描述的挑战。我们的目标是确认常染色体显性钙蛋白酶病的存在。
更新日期：2020-06-10
中文翻译：
与常染色体显性显性钙蛋白酶病相关的新型 CAPN3 变异
最常见的常染色体隐性肢带肌营养不良症与 CAPN3 基因有关。这种疾病的完全隐性遗传最近受到与常染色体显性遗传相关的复发变异 c.643_663del21 [p.(Ser215_Gly221del)] 和 c.598_612del15 [p.(Phe200_Leu204del)] 的描述的挑战。我们的目标是确认常染色体显性钙蛋白酶病的存在。
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