| 1 | CFTD3, TPM3 |
| Muscle weakness in TPM3-myopathy is due to reduced Ca2+-sensitivity and impaired acto-myosin cross-bridge cycling in slow fibres. | |
| Yuen M, Cooper ST, Marston SB, Nowak KJ, McNamara E, Mokbel N, Ilkovski B, Ravenscroft G, Rendu J, de Winter JM, Klinge L, Beggs AH, North KN, Ottenheijm CA, Clarke NF. | |
| Hum Mol Genet 24(22):6278-92. doi: 10.1093/hmg/ddv334. Epub 2015 Aug 24. 2015 | |
| 2 | CFTD3, TPM3 |
| Congenital fibre type disproportion associated with mutations in the tropomyosin 3 (TPM3) gene mimicking congenital myasthenia. | |
| Munot P, Lashley D, Jungbluth H, Feng L, Pitt M, Robb SA, Palace J, Jayawant S, Kennet R, Beeson D, Cullup T, Abbs S, Laing N, Sewry C, Muntoni F. | |
| Neuromuscul Disord 20(12):796-800. Epub 2010 Oct 14. 2010 | |