TY - JOUR
T1 - Centronuclear myopathy related to dynamin 2 mutations
T2 - Clinical, morphological, muscle imaging and genetic features of an Italian cohort
AU - Catteruccia, Michela
AU - Fattori, Fabiana
AU - Codemo, Valentina
AU - Ruggiero, Lucia
AU - Maggi, Lorenzo
AU - Tasca, Giorgio
AU - Fiorillo, Chiara
AU - Pane, Marika
AU - Berardinelli, Angela
AU - Verardo, Margherita
AU - Bragato, Cinzia
AU - Mora, Marina
AU - Morandi, Lucia
AU - Bruno, Claudio
AU - Santoro, Lucio
AU - Pegoraro, Elena
AU - Mercuri, Eugenio
AU - Bertini, Enrico
AU - D'Amico, Adele
PY - 2013
Y1 - 2013
N2 - 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.
AB - 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.
KW - 'Necklace' fibers
KW - Centronuclear myopathy
KW - DNM2
KW - Muscle MRI
KW - Somatic mosaicism
UR - http://www.scopus.com/inward/record.url?scp=84873264610&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=84873264610&partnerID=8YFLogxK
U2 - 10.1016/j.nmd.2012.12.009
DO - 10.1016/j.nmd.2012.12.009
M3 - Article
JO - Neuromuscular Disorders
JF - Neuromuscular Disorders
SN - 0960-8966
ER -