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. 2018 Jun 20;27(18):3272–3282. doi: 10.1093/hmg/ddy233

Table 2.

Monogenic TNNT1 nemaline myopathies

Ethnicity Protein variant Inheritance Reference(s)
Old Order Amish p.Glu180Ter AR Johnston et al. (13) and Jin et al. (19)
Dutch ΔExon 8 ARa van der Pol et al. (14)
Dutch ΔExon 14 ARa van der Pol et al. (14)
Hispanic p.Ser108Ter AR Marra et al. (15)
Palestinian p.Leu203Ter AR Abdulhaq et al. (9)
Iranian p.Leu203Ter AR Fattahi et al. (16)
Not specified p.Glu104Val AD Konersman et al. (10)
a

Compound heterozygous variants in Dutch kindred.

AD, autosomal dominant; AR, autosomal recessive.