PTRH2 gene mutation causes progressive congenital skeletal muscle pathology. - Doe J; Kaindl AM; Jijiwa M; de la Vega M; Hu H; Griffiths GS; Fontelonga TM; Barraza P; Cruz V; Van Ry P; Ramos JW; Burkin DJ; et al. (Human molecular genetics, 2017)