Clinical phenotype and loss of the slow skeletal muscle troponin T in three new patients with recessive TNNT1 nemaline myopathy

BACKGROUND: Congenital nemaline myopathies are rare pathologies characterised by muscle weakness and rod-shaped inclusions in the muscle fibres. METHODS: Using next-generation sequencing, we identified three patients with pathogenic variants in the Troponin T type 1 (TNNT1) gene, coding for the trop...

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Detalles Bibliográficos
Autores principales: Géraud, Justine, Dieterich, Klaus, Rendu, John, Uro Coste, Emmanuelle, Dobrzynski, Murielle, Marcorelle, Pascale, Ioos, Christine, Romero, Norma Beatriz, Baudou, Eloise, Brocard, Julie, Coville, Anne-Cécile, Fauré, Julien, Koenig, Michel, Juntas Morales, Raul, Lacène, Emmanuelle, Madelaine, Angéline, Marty, Isabelle, Pegeot, Henri, Theze, Corinne, Siegfried, Aurore, Cossee, Mireille, Cances, Claude
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BMJ Publishing Group 2021
Materias:
Diagnostics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8394741/
https://www.ncbi.nlm.nih.gov/pubmed/32994279
http://dx.doi.org/10.1136/jmedgenet-2019-106714

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