Pfeffer, G., Sambuughin, N., Olivé, M., Tyndel, F., Toro, C., Goldfarb, L. G., & Chinnery, P. F. (2014). A new disease allele for the p.C30071R mutation in titin causing hereditary myopathy with early respiratory failure(). Pergamon Press.

Pfeffer, Gerald, Nyamkhishig Sambuughin, Montse Olivé, Felix Tyndel, Camilo Toro, Lev G. Goldfarb, a Patrick F. Chinnery. A New Disease Allele for the P.C30071R Mutation in Titin Causing Hereditary Myopathy With Early Respiratory Failure(). Pergamon Press, 2014.

Pfeffer, Gerald, et al. A New Disease Allele for the P.C30071R Mutation in Titin Causing Hereditary Myopathy With Early Respiratory Failure(). Pergamon Press, 2014.