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

Neuromuscular Disorders

Volumn 23, Issue 3, 2013, Pages 229-238

  Catteruccia, Michela ^a   Fattori, Fabiana ^a   Codemo, Valentina ^b   Ruggiero, Lucia ^c   Maggi, Lorenzo ^d   Tasca, Giorgio ^e   Fiorillo, Chiara ^f   Pane, Marika ^g   Berardinelli, Angela ^h   Verardo, Margherita ^a   Bragato, Cinzia ^d   Mora, Marina ^d   Morandi, Lucia ^d   Bruno, Claudio ⁱ   Santoro, Lucio ^c   Pegoraro, Elena ^b   Mercuri, Eugenio ^g   Bertini, Enrico ^a   D'Amico, Adele ^a  

^a BAMBINO GESÙ CHILDREN S HOSPITAL   (Italy)

^b UNIVERSITY OF PADOVA   (Italy)

^c UNIVERSITY OF NAPLES FEDERICO II   (Italy)

^d DEPARTMENT OF NEUROSURGERY   (Italy)

^e IRCCS FONDAZIONE DON CARLO GNOCCHI   (Italy)

^f DEPARTMENT OF DEVELOPMENTAL NEUROSCIENCE   (Italy)

^g CATHOLIC UNIVERSITY   (Italy)

^h C MONDINO NATIONAL NEUROLOGICAL INSTITUTE   (Italy)

ⁱ G GASLINI INSTITUTE   (Italy)

Author keywords

Centronuclear myopathy; DNM2; Muscle MRI; Somatic mosaicism; Necklace fibers

Indexed keywords

BETA ADRENERGIC RECEPTOR BLOCKING AGENT; DYNAMIN II; GENOMIC DNA;

ADDUCTOR MAGNUS MUSCLE; ADOLESCENT; ADULT; ARTICLE; CENTRONUCLEAR MYOPATHY; CHILD; CLINICAL ARTICLE; CLINICAL FEATURE; COHORT ANALYSIS; CONTRACTURE; DISEASE SEVERITY; DNA EXTRACTION; DNM2 GENE; DYSPHAGIA; ELECTROCARDIOGRAPHY; ELECTROMYOGRAPHY; EYE MOVEMENT; FEMALE; FORCED VITAL CAPACITY; GENE MUTATION; GENETIC ASSOCIATION; GENETIC HETEROGENEITY; HAMSTRING MUSCLE; HETEROZYGOSITY; HOMOLOGOUS RECOMBINATION; HUMAN; IMAGE ANALYSIS; ITALIAN (CITIZEN); JAW DISEASE; LUNG DISEASE; MALE; MIDDLE AGED; MISSENSE MUTATION; MORPHOLOGY; MUSCLE ATROPHY; MUSCLE BIOPSY; NERVE CONDUCTION; NEWBORN; NONINVASIVE VENTILATION; OPHTHALMOPLEGIA; PRESCHOOL CHILD; SCHOOL CHILD; SOLEUS MUSCLE; SOMATIC MUTATION; STRABISMUS; TACHYCARDIA; TIBIALIS ANTERIOR MUSCLE; TRACHEOSTOMY;

EID: 85013250259     PISSN: 09608966     EISSN: 18732364     Source Type: Journal    
DOI: 10.1016/j.nmd.2012.12.009     Document Type: Article

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