Varaico: Literature-Extracted Genetic Variants

Gene:MYOT
Variant:p.S95I
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MYOT

NM_006790.3:p.S95I

Associated Papers

Human Mutated MYOT and CRYAB Genes Cause a Myopathic Phenotype in Zebrafish.

Cannone E et al.

International Journal of Molecular Sciences, 2023

The Role of Z-disc Proteins in Myopathy and Cardiomyopathy.

Wadmore K et al.

International Journal of Molecular Sciences, 2021

Conformational plasticity and evolutionary analysis of the myotilin tandem Ig domains.

Puž V et al.

Scientific Reports, 2017

28638118 (PubMed )
Supplement: 41598_2017_3323_MOESM2_ESM.pdf

Homozygosity of the Dominant Myotilin c.179C>T (p.Ser60Phe) Mutation Causes a More Severe and Proximal Muscular Dystrophy.

Rudolf G et al.

Journal of Neuromuscular Diseases, 2016

Myotilin dynamics in cardiac and skeletal muscle cells.

Wang J et al.

Cytoskeleton (hoboken, N.j.), 2011

Defective myotilin homodimerization caused by a novel mutation in MYOT exon 9 in the first Japanese limb girdle muscular dystrophy 1A patient.

Shalaby S et al.

Journal of Neuropathology and Experimental Neurology, 2009

The Z-disk diseases.

Selcen D et al.

Advances in Experimental Medicine and Biology, 2008

Molecular biology of distal muscular dystrophies--sarcomeric proteins on top.

Udd B

Biochimica Et Biophysica Acta, 2007

Transgenic mice expressing the myotilin T57I mutation unite the pathology associated with LGMD1A and MFM.

Garvey SM et al.

Human Molecular Genetics, 2006

Actin-organising properties of the muscular dystrophy protein myotilin.

von Nandelstadh P et al.

Experimental Cell Research, 2005

Myotilinopathy: refining the clinical and myopathological phenotype.

Olivé M et al.

Brain : a Journal of Neurology, 2005

Mutations in myotilin cause myofibrillar myopathy.

Selcen D et al.

Neurology, 2004

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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."