Varaico: Literature-Extracted Genetic Variants

Gene:CAPN3
Variant:p.I777T
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CAPN3

NM_000070.3:p.I777T

Associated Papers

The inflammatory pathology of dysferlinopathy is distinct from calpainopathy, Becker muscular dystrophy, and inflammatory myopathies.

Becker N et al.

Acta Neuropathologica Communications, 2022

35135626 (PubMed )
Supplement: 40478_2022_1320_MOESM1_ESM.pdf

Multiparametric quantitative MRI assessment of thigh muscles in limb-girdle muscular dystrophy 2A and 2B.

Arrigoni F et al.

Muscle & Nerve, 2018

ISPD mutations account for a small proportion of Italian Limb Girdle Muscular Dystrophy cases.

Magri F et al.

Bmc Neurology, 2015

26404900 (PubMed )
Supplement: 12883_2015_428_MOESM1_ESM.pdf

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

Hauerslev S et al.

Bmc Musculoskeletal Disorders, 2012

How to tackle the diagnosis of limb-girdle muscular dystrophy 2A.

Fanin M et al.

European Journal of Human Genetics : Ejhg, 2009

Correlations between clinical severity, genotype and muscle pathology in limb girdle muscular dystrophy type 2A.

Fanin M et al.

Journal of Medical Genetics, 2007

Extensive scanning of the calpain-3 gene broadens the spectrum of LGMD2A phenotypes.

Piluso G et al.

Journal of Medical Genetics, 2005

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."