Clinical phenotype and loss of the slow skeletal muscle troponin T in three new patients with recessive TNNT1 nemaline myopathy
Justine Géraud, Klaus Dieterich, John Rendu, Emmanuelle Uro Coste, Murielle Dobrzynski, Pascale Marcorelle, Christine Ioos, Norma Beatriz Romero, Eloise Baudou, Julie Brocard, Anne-Cécile Coville, Julien Fauré, Michel Koenig, Raul Juntas Morales, Emmanuelle Lacène, Angéline Madelaine, Isabelle Marty, Henri Pegeot, Corinne Theze, Aurore Siegfried, Mireille Cossee, Claude Cances
Journal of Medical Genetics Sep 2020, jmedgenet-2019-106714; DOI: 10.1136/jmedgenet-2019-106714