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

Research output: Contribution to journalArticle

52 Citations (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.
Original languageEnglish
Pages (from-to)824-833
Number of pages10
JournalEJMG
Volume51
DOIs
Publication statusPublished - 2014

Keywords

  • Genetic screening/counselling
  • Molecular genetics
  • Muscle disease

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