Clinical, histological and genetic characterisation of patients with tubular aggregate myopathy caused by mutations in STIM1

Enzo Ricci, Johann Böhm, Frédéric Chevessier, Catherine Koch, G. Arielle Peche, Marina Mora, Lucia Morandi, Barbara Pasanisi, Isabella Moroni, Giorgio Tasca, Fabiana Fattori, Isabelle Pénisson-Besnier, Aleksandra Nadaj-Pakleza, Michel Fardeau, Pushpa Raj Joshi, Marcus Deschauer, Norma Beatriz Romero, Bruno Eymard, Jocelyn Laporte

Risultato della ricerca: Contributo in rivistaArticolo in rivista

52 Citazioni (Scopus)

Abstract

Tubular aggregate myopathies (TAMs) are muscle disorders characterised by abnormal accumulations of densely packed single-walled or double-walled membrane tubules in muscle fibres. Recently, STIM1, encoding a major calcium sensor of the endoplasmic reticulum, was identified as a TAM gene.
Lingua originaleEnglish
pagine (da-a)824-833
Numero di pagine10
RivistaEJMG
Volume51
DOI
Stato di pubblicazionePubblicato - 2014

Keywords

  • Genetic screening/counselling
  • Molecular genetics
  • Muscle disease

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