Associated Papers
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
Clinical, morphological and genetic studies in a cohort of 21 patients with myofibrillar myopathy.
Vattemi G et al.
Acta Myologica : Myopathies and Cardiomyopathies : Official Journal of the Mediterranean Society of Myology, 2011
Limb-girdle muscular dystrophy-associated protein diseases.
Broglio L et al.
The Neurologist, 2010
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
Generalized muscle pseudo-hypertrophy and stiffness associated with the myotilin Ser55Phe mutation: a novel myotilinopathy phenotype?
Gamez J et al.
Journal of the Neurological Sciences, 2009
The Z-disk diseases.
Selcen D et al.
Advances in Experimental Medicine and Biology, 2008
Transgenic mice expressing the myotilin T57I mutation unite the pathology associated with LGMD1A and MFM.
Garvey SM et al.
Human Molecular Genetics, 2006
Protein aggregate myopathies.
Goebel HH et al.
Seminars in Pediatric Neurology, 2006
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