title: Centronuclear myopathy related to dynamin 2 mutations: clinical, morphological, muscle imaging and genetic features of an Italian cohort.
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.
authors: Unit for Neuromuscular and Neurodegenerative Disorders, Laboratory of Molecular Medicine, Bambino Gesù Children's Hospital, Rome, Italy.
authors: Michela
authors: M
authors: Catteruccia
authors: Fabiana
authors: F
authors: Fattori
authors: Valentina
authors: V
authors: Codemo
authors: Lucia
authors: L
authors: Ruggiero
authors: Lorenzo
authors: L
authors: Maggi
authors: Giorgio
authors: G
authors: Tasca
authors: Chiara
authors: C
authors: Fiorillo
authors: Marika
authors: M
authors: Pane
authors: Angela
authors: A
authors: Berardinelli
authors: Margherita
authors: M
authors: Verardo
authors: Cinzia
authors: C
authors: Bragato
authors: Marina
authors: M
authors: Mora
authors: Lucia
authors: L
authors: Morandi
authors: Claudio
authors: C
authors: Bruno
authors: Lucio
authors: L
authors: Santoro
authors: Elena
authors: E
authors: Pegoraro
authors: Eugenio
authors: E
authors: Mercuri
authors: Enrico
authors: E
authors: Bertini
authors: Adele
authors: A
authors: D'Amico
mesh_terms: D000293:Adolescent; D000328:Adult; D002648:Child; D002675:Child, Preschool; D034285:Dynamin II / Q000235:genetics*; D005260:Female; D006801:Humans; D007558:Italy; D008279:Magnetic Resonance Imaging; D008297:Male; D008875:Middle Aged; D009030:Mosaicism; D018482:Muscle, Skeletal / Q000473:pathology*; D009154:Mutation; D020914:Myopathies, Structural, Congenital / Q000235:genetics* / Q000473:pathology; D010641:Phenotype
chemical_list: D034285:Dynamin II
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