Recombinant Human Myotilin (MYOT)

1. sequence conservation analysis of myotilin shed light on the molecular basis of myotilinopathies and revealed several motifs in Ig domains found also in I-band proteins. PMID: 28638118
2. A French family affected with a late onset proximal and distal muscle weakness and myofibrillar myopathy on muscle pathology, in which the siblings known to be clinically affected were homozygous for the c.179C>T (p.Ser60Phe) myotilin gene mutation is reported. PMID: 27854214
3. Describe the first homozygous mutation in the myotilin gene leading to a novel, autosomal recessive subtype of myofibrillar myopathy (MFM). PMID: 24928145
4. Analysis of myotilin turnover provides mechanistic insight into the role of myotilinopathy-causing mutations PMID: 21361873
5. A second known pedigree with LGMD1A: this finding constitutes a gold standard of proof that mutations in the myotilin gene cause Limb-Girdle Muscular Dystrophy 1A PMID: 12428213
6. Myotilin a thin filament-associated Z-disc protein.It binds to alpha-actinin and filamin c and is mutated in limb girdle muscular dystrophy 1A (LGMD1A).myotilin binds F-actin and prevents filament disassembly induced by Latrunculin A PMID: 12499399
7. Mutations in myotilin cause MFM; exon 2 of MYOT is a hotspot for mutations; peripheral neuropathy, cardiomyopathy, and distal weakness greater than proximal weakness are part of the spectrum of myotilinopathy; not all cases have a limb-girdle phenotype PMID: 15111675
8. Our findings provide evidence for a novel connection between the Z-disc protein myotilin and the sarcolemma via filamins and beta1 integrins. PMID: 16076904
9. The function of the myotilin protein is studied with regards its actin-organizing properties. PMID: 16122733
10. A novel mutation in the myotilin gene results in the clinical and pathologic phenotype termed "spheroid body myopathy." Mutations in this gene also cause limb-girdle muscular dystrophy 1A and are associated with myofibrillar myopathy. PMID: 16380616
11. Mutations within the MYOT gene are not a cause for Vocal Cord and Pharyngeal Weakness with Distal Myopathy (VCPDM). PMID: 16674563
12. multigenerational French family in which gene sequencing identified a S60F myotilin mutation in all patients with full penetrance despite very late onset PMID: 16793270
13. Myotilin mutations promote aggregate-dependent contractile dysfunction similar to Limb-girdle Muscular Dystrophy type 1A and Myofibrillar Myopathy. PMID: 16801328
14. Myotilin S55F mutations may cause a clinically distinct autosomal-dominant late-onset and lower-limb distal myopathic syndrome. MRI helps to depict the topography of fatty muscle atrophy and to detect gene mutation carriers. PMID: 17698502
15. new autosomal dominant kindred with generalized symmetrical increase in muscle bulk PMID: 19027924
16. This is the first report of a binding motif common to both the myotilin and the FATZ (calsarcin/myozenin) families that is specific for interactions with Enigma family members. PMID: 19047374
17. Data show that in myofibrillar myopathies myotilin exhibites significant alterations in their localization. PMID: 19151983
18. study presents high-resolution structure of the first Ig-domain of myotilin determined with solution state NMR spectroscopy; structure of MyoIg1 exhibits I-type Ig-fold PMID: 19418025
19. identified a novel MYOT mutation in Exon 9 encoding the second immunoglobulin-like domain in 1 patient with clinically typical limb girdle muscular dystrophy PMID: 19458539

Show More

Hide All

HGNC: 12399

OMIM: 159000

KEGG: hsa:9499

STRING: 9606.ENSP00000239926

UniGene: Hs.84665