Your browser doesn't support javascript.
loading
Clinical phenotype and loss of the slow skeletal muscle troponin T in three new patients with recessive TNNT1 nemaline myopathy.
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.
  • Géraud J; Neuropediatric Department, University Hospital Centre Toulouse, Toulouse, France.
  • Dieterich K; INSERM U1216, Grenoble Alpes University Hospital, Grenoble, France.
  • Rendu J; INSERM U1037, Cancer Research Center of Toulouse (CRCT), Department of Pathology, Toulouse University Hospital, Toulouse, France.
  • Uro Coste E; INSERM U1216, Grenoble Alpes University Hospital, Grenoble, France.
  • Dobrzynski M; INSERM U1216, University of Grenoble Alpes, Grenoble, France.
  • Marcorelle P; INSERM U1037, Cancer Research Center of Toulouse (CRCT), Department of Pathology, Toulouse University Hospital, Toulouse, France.
  • Ioos C; Maternity Department, Brest University Hospital Center, Brest, France.
  • Romero NB; Pathology Department, Brest University Hospital, Morvan Hospital, Brest, France.
  • Baudou E; Neuropediatric Department, Garches University Hospital Center, Garches, France.
  • Brocard J; UMRS974, CNRS FRE3617, Center for Research in Myology, INSERM, CNRS, Sorbonne University, UPMC University of Paris 06, Paris, France.
  • Coville AC; Myology Institute, Assistance Publique-Hôpitaux de Paris, Pitié-Salpêtrière University Hospital, Paris, France.
  • Fauré J; Neuropediatric Department, University Hospital Centre Toulouse, Toulouse, France.
  • Koenig M; INSERM U1216, Grenoble Alpes University Hospital, Grenoble, France.
  • Juntas Morales R; INSERM U1216, University of Grenoble Alpes, Grenoble, France.
  • Lacène E; Neuropediatric Department, University Hospital Centre Toulouse, Toulouse, France.
  • Madelaine A; INSERM U1216, Grenoble Alpes University Hospital, Grenoble, France.
  • Marty I; INSERM U1216, University of Grenoble Alpes, Grenoble, France.
  • Pegeot H; Molecular Genetics Laboratory, LGMR, Montpellier University Hospital Centre, University of Montpellier, Montpellier, France.
  • Theze C; Molecular Genetics Laboratory, LGMR, Montpellier University Hospital Centre, University of Montpellier, Montpellier, France.
  • Siegfried A; UMRS974, CNRS FRE3617, Center for Research in Myology, INSERM, CNRS, Sorbonne University, UPMC University of Paris 06, Paris, France.
  • Cossee M; Myology Institute, Assistance Publique-Hôpitaux de Paris, Pitié-Salpêtrière University Hospital, Paris, France.
  • Cances C; UMRS974, CNRS FRE3617, Center for Research in Myology, INSERM, CNRS, Sorbonne University, UPMC University of Paris 06, Paris, France.
J Med Genet ; 58(9): 602-608, 2021 09.
Article en En | MEDLINE | ID: mdl-32994279
Asunto(s)
Palabras clave
Texto completo
Imprimir
XML
PubMed Links
Search on Google

Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Fenotipo / Miopatías Nemalínicas / Predisposición Genética a la Enfermedad / Troponina T / Estudios de Asociación Genética / Mutación Tipo de estudio: Prognostic_studies Límite: Child, preschool / Female / Humans / Infant Idioma: En Año: 2021 Tipo del documento: Article
Texto completo
Imprimir
XML
PubMed Links
Search on Google

Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Fenotipo / Miopatías Nemalínicas / Predisposición Genética a la Enfermedad / Troponina T / Estudios de Asociación Genética / Mutación Tipo de estudio: Prognostic_studies Límite: Child, preschool / Female / Humans / Infant Idioma: En Año: 2021 Tipo del documento: Article