Truncating mutations in C-terminal titin may cause more severe tibial muscular dystrophy (TMD).
Hackman P, Marchand S, Sarparanta J, Vihola A, Pénisson-Besnier I, Eymard B, Pardal-Fernández JM, Hammouda el-H, Richard I, Illa I, Udd B.
Hackman P, et al. Among authors: marchand s.
Neuromuscul Disord. 2008 Dec;18(12):922-8. doi: 10.1016/j.nmd.2008.07.010. Epub 2008 Oct 22.
Neuromuscul Disord. 2008.
PMID: 18948003