POMT1
NM_001077365.2:p.F173_N175delins
Geis T et al.
Orphanet Journal of Rare Diseases, 2019
Muntoni F et al.
Acta Myologica : Myopathies and Cardiomyopathies : Official Journal of the Mediterranean Society of Myology, 2007
Godfrey C et al.
Brain : a Journal of Neurology, 2007