Centronuclear myopathy related to dynamin 2 mutations: clinical, morphological, muscle imaging and genetic features of an Italian cohort

Eugenio Maria Mercuri, Michela Catteruccia, Fabiana Fattori, Valentina Codemo, Lucia Ruggiero, Lorenzo Maggi, Giorgio Tasca, Chiara Fiorillo, Angela Berardinelli, Margherita Verardo, Cinzia Bragato, Marina Mora, Lucia Morandi, Claudio Bruno, Lucio Santoro, Elena Pegoraro, Enrico Bertini, Adele D'Amico

Risultato della ricerca: Contributo in rivistaArticolo in rivista

36 Citazioni (Scopus)

Abstract

Mutations in dynamin 2 (DNM2) gene cause autosomal dominant centronuclear myopathy and occur in around 50% of patients with centronuclear myopathy. We report clinical, morphological, muscle imaging and genetic data of 10 unrelated Italian patients with centronuclear myopathy related to DNM2 mutations. Our results confirm the clinical heterogeneity of this disease, underlining some peculiar clinical features, such as severe pulmonary impairment and jaw contracture that should be considered in the clinical follow-up of these patients. Muscle MRI showed a distinct pattern of involvement, with predominant involvement of soleus and tibialis anterior in the lower leg muscles, followed by hamstring muscles and adductor magnus at thigh level and gluteus maximus. The detection of three novel DNM2 mutations and the first case of somatic mosaicism further expand the genetic spectrum of the disease.
Lingua originaleEnglish
pagine (da-a)229-238
Numero di pagine10
RivistaNeuromuscular disorders : NMD
Volume23
DOI
Stato di pubblicazionePubblicato - 2013

Keywords

  • Adolescent
  • Adult
  • Child
  • Child, Preschool
  • Dynamin II
  • Female
  • Humans
  • Italy
  • Magnetic Resonance Imaging
  • Male
  • Middle Aged
  • Mosaicism
  • Muscle, Skeletal
  • Mutation
  • Myopathies, Structural, Congenital
  • Phenotype

Fingerprint Entra nei temi di ricerca di 'Centronuclear myopathy related to dynamin 2 mutations: clinical, morphological, muscle imaging and genetic features of an Italian cohort'. Insieme formano una fingerprint unica.

Cita questo