Correlation Engine 2.0
Clear Search sequence regions


  • adult (3)
  • dyspnea (1)
  • exon (1)
  • female (1)
  • gene (3)
  • gene lethal (1)
  • humans (1)
  • minor (1)
  • myalgia (1)
  • osteonecrosis (1)
  • patient (3)
  • posterior cranial fossa (1)
  • thigh (1)
  • TNNT1 (4)
  • troponin t (2)
  • Sizes of these terms reflect their relevance to your search.

    Mutations in the TNNT1 gene cause an infantile, lethal form of myopathy named "Amish" Nemaline Myopathy. Adult patients are very rarely described. We report a 49-year-old patient who presented a slowly progressive phenotype characterized by myalgia, exercise intolerance and dyspnea since infancy. In adult life she lapsed into a coma as a result of acute respiratory failure, with the need of tracheostomy, subsequently removed once her respiratory condition improved. Afterwards, non-invasive ventilation was started. Short stature, contractures, a small size posterior cranial fossa and osteonecrosis were additional clinical findings. Muscle MRI showed minor hypotrophy and degenerative changes of the muscles of the posterior thigh compartment and involvement of the paraspinal, medial gastrocnemius and soleus muscles with sparing of the gracilis muscle. Muscle biopsy revealed multiminicores and nemaline rods. Genetic analysis identified a new pathogenetic biallelic deletion c.786delG p.(Lys263Serfs*36) in exon 13 of TNNT1 gene. This case confirms that recessive mutations in TNNT1 gene can manifest mainly with respiratory failure in adult life. Copyright © 2021 Elsevier B.V. All rights reserved.

    Citation

    Antonio Petrucci, Guido Primiano, Marco Savarese, Cristina Sancricca, Bjarne Udd, Serenella Servidei. Novel TNNT1 mutation and mild nemaline myopathy phenotype in an Italian patient. Neuromuscular disorders : NMD. 2021 Jun;31(6):532-538

    Expand section icon Mesh Tags

    Expand section icon Substances


    PMID: 33832840

    View Full Text