An Italian case of hereditary myopathy with early respiratory failure (HMERF) not associated with the titin kinase domain R279W mutation

Massimiliano Mirabella, Aldobrando Broccolini, Mario Sabatelli, Enzo Ricci, Giorgio Tasca, Mauro Monforte, Gl Biscione, G Piluso, F Gualandi, Pa Tonali, B Udd

Risultato della ricerca: Contributo in rivistaArticolo in rivistapeer review

12 Citazioni (Scopus)

Abstract

Hereditary myopathy with early respiratory failure (HMERF) is a rare disorder characterized by severe respiratory involvement at onset, muscle weakness starting in the early adulthood, and cytoplasmic bodies with peculiar immunohistochemical reactivity on muscle biopsy. Here we describe a patient who presented with hypercapnic coma at age 32. A detailed light and electron microscopy analysis on muscle biopsy was performed and, together with clinical data, led to the diagnosis. The R279W mutation in the TTN gene was excluded. This report expands the geographical region of incidence and encourages additional studies to clarify the genetic heterogeneity of the condition.
Lingua originaleEnglish
pagine (da-a)730-734
Numero di pagine5
RivistaNeuromuscular Disorders
Volume20
DOI
Stato di pubblicazionePubblicato - 2010

Keywords

  • Adult
  • Humans
  • Italy
  • Male
  • Mitochondria
  • Muscle Weakness
  • Muscle, Skeletal
  • Muscular Diseases
  • Respiratory Insufficiency

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