Muscle magnetic resonance imaging and histopathology in ACTA1-related congenital nemaline myopathy

Claudia Castiglioni, Denis Cassandrini, Fabiana Fattori, Emanuele Bellacchio, Adele D'Amico, Karin Alvarez, Roger Gejman, Jorge Diaz, Filippo M. Santorelli, Norma B. Romero, Enrico Bertini, Jorge A. Bevilacqua

Research output: Contribution to journalArticlepeer-review


Introduction: Muscle biopsy is usually diagnostic in nemaline myopathy (NM), but some patients may show nonspecific findings, leading to pitfalls in diagnosis. Muscle MRI is a helpful complementary tool. Methods: We assessed the clinical, histopathological, MRI, and molecular findings in a 19-year-old patient with NM in whom 2 muscle biopsies with ultrastructural examination showed no nemaline bodies. We analyzed the degree and pattern of muscle MRI involvement of the entire body, including the tongue and pectoral muscles. Results: Muscle MRI abnormalities in sartorius, adductor magnus, and anterior compartment muscles of the leg suggested NM. A previously unreported fatty infiltration of the tongue was found. A third biopsy after the muscle MRI showed scant nemaline bodies. A novel heterozygous de novo ACTA1 c.611C>T/p.Thr204Ile mutation was detected. Conclusions: We highlight the contribution of muscle imaging in addressing the genetic diagnosis of ACTA1-related NM.

Original languageEnglish
Pages (from-to)1011-1016
Number of pages6
JournalMuscle and Nerve
Issue number6
Publication statusPublished - Dec 1 2014


  • ACTA1, congenital myopathy
  • Nemaline myopathy
  • Neurogenetics
  • Type 1 fiber predominance
  • Whole muscle MRI

ASJC Scopus subject areas

  • Clinical Neurology
  • Cellular and Molecular Neuroscience
  • Physiology (medical)
  • Physiology
  • Medicine(all)


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