Publications

The gene that causes Limb Girdle Muscular Dystrophy type 2G (LGMD2G) was discovered in 2000 and was originally named Telethonin, while TCAP is the official name for the gene. When searching publications and literature, annoying both should be used to catch everything!

Initial Gene Discovery Published in Nature Genetics

Moreira ES, Wiltshire TJ, Faulkner G, Nilforoushan A, Vainzof M, Suzuki OT, Valle G, Reeves R, Zatz M, Passos-Bueno MR, Jenne DE. Limb-girdle muscular dystrophy type 2G is caused by mutations in the gene encoding the sarcomeric protein telethonin. Nat Genet. 2000 Feb;24(2):163-6. PMID: 10655062

TCAP mouse model

Markert CD, Meaney MP, Voelker KA, Grange RW, Dalley HW, Cann JK, Ahmed M, Bishwokarma B, Walker SJ, Yu SX, Brown M, Lawlor MW, Beggs AH, Childers MK. Functional muscle analysis of the Tcap knockout mouse. Hum Mol Genet. 2010 Jun 1;19(11):2268-83. PMID: 20233748

TCAP zebra fish model

Zhang R, Yang J, Zhu J, Xu X. Depletion of zebrafish Tcap leads to muscular dystrophy via disrupting sarcomere-membrane interaction, not sarcomere assembly. Hum Mol Genet. 2009 Nov 1;18(21):4130-40. PMID: 19679566