Table 2 Reported variants in TTN gene causing TMD in European families
From: Heterozygous missense variant in the TTN gene causing Tibial muscular dystrophy
Patient family | Mutation | References |
|---|---|---|
Finnish family | c.102857_102867delinsTGAAAGAAAAA (p.Glu34286_Trp34289delinsValLysGluLys) | Hackman et al. [25] |
Finnish family | c.102944T > C (p.Leu34315Pro) | Hackman et al. [25] |
French family | c.107867T > C (p.Leu35956Pro) | |
French family | c.107890C > T (p.Gln35964*) | Hackman et al. [27] |
Albacete family | c.107889delA (p.Lys35963Asnfs*9) | Hackman et al. [27] |
Barcelona family | c.107889delA (p.Lys35963Asnfs*9) | Hackman et al. [27] |
Belgian family | c.107840T > A (p.Ile35947Asn) | van den Bergh et al. [4] |
Belgian family | c.102917T > G (p.Ile34306Ser) | van den Bergh et al. [4] |
Italian family | c.107837A > C (p.His35946Pro) | Pollazzon et al. [5] |