A single c.1715G>C calpain 3 gene variant causes dominant calpainopathy with loss of calpain 3 expression and activity-Reference-Cited by-同舟云学术

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A single c.1715G>C calpain 3 gene variant causes dominant calpainopathy with loss of calpain 3 expression and activity

Published:2020-07-11 Issue:9 Volume:41 Page:1507-1513
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Human Mutation

Author:

Vissing John¹^ORCID,Dahlqvist Julia R.¹,Roudaut Carinne²,Poupiot Jerome²,Richard Isabelle²^ORCID,Duno Morten³,Krag Thomas¹

Affiliation:

1. Department of Neurology, Copenhagen Neuromuscular Center, Rigshospitalet University of Copenhagen Copenhagen Denmark

2. INTEGRARE, Genethon, Inserm Université d'Évry, Université Paris‐Saclay Evry France

3. Department of Clinical Genetics, Rigshospitalet University of Copenhagen Copenhagen Denmark

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/humu.24066

Reference15 articles.

1. European muscle MRI study in limb girdle muscular dystrophy type R1/2A (LGMDR1/LGMD2A)

2. Calpain 3, the “gatekeeper” of proper sarcomere assembly, turnover and maintenance

3. cDNA analyses of CAPN3 enhance mutation detection and reveal a low prevalence of LGMD2A patients in Denmark

4. Limb-Girdle Muscular Dystrophy Type 2A Can Result from Accelerated Autoproteolytic Inactivation of Calpain 3

5. Calpain 3 is important for muscle regeneration: Evidence from patients with limb girdle muscular dystrophies

Cited by 15 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. MRI for the diagnosis of limb girdle muscular dystrophies;Current Opinion in Neurology;2024-08-12

2. The CAPN3 p.Lys 254del variant is not always associated with dominant CAPN3‐related muscular dystrophy;Muscle & Nerve;2024-02

3. The Spectrum of the Heterozygous Effect in Biallelic Mendelian Diseases—The Symptomatic Heterozygote Issue;Genes;2023-07-31

4. The in-frame p.Lys254del-CAPN3 deletion is not sufficient to cause late-onset camptocormia in dominantly inherited calpainopathy;2023-07-23

5. The Calpain Proteolytic System;Encyclopedia of Cell Biology;2023

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