title: Dynamin 2 mutations cause sporadic centronuclear myopathy with neonatal onset.
abstract: We report four heterozygous dynamin 2 (DNM2) mutations in five centronuclear myopathy patients aged 1 to 15 years. They all presented with neonatal hypotonia with weak suckling. Thereafter, their phenotype progressively improved. All patients demonstrated muscle weakness prominent in the lower limbs, and most of them also presented with facial weakness, open mouth, arched palate, ptosis, and ophthalmoparesis. Electrophysiology showed only myopathic changes, and muscle biopsies showed central nuclei and type 1 fiber hypotrophy and predominance. Our results expand the phenotypic spectrum of dynamin 2-related centronuclear myopathy from the classic mild form to the more severe neonatal phenotype.
authors.affiliation: Institut National de la Sante et de la Recherche Médicale, U582, Institut de Myologie, Paris, France.
authors.forename: Marc
authors.initials: M
authors.lastname: Bitoun
authors.forename: Jorge A
authors.initials: JA
authors.lastname: Bevilacqua
authors.forename: Bernard
authors.initials: B
authors.lastname: Prudhon
authors.forename: Svetlana
authors.initials: S
authors.lastname: Maugenre
authors.forename: Ana Lia
authors.initials: AL
authors.lastname: Taratuto
authors.forename: Soledad
authors.initials: S
authors.lastname: Monges
authors.forename: Fabiana
authors.initials: F
authors.lastname: Lubieniecki
authors.forename: Claude
authors.initials: C
authors.lastname: Cances
authors.forename: Emmanuelle
authors.initials: E
authors.lastname: Uro-Coste
authors.forename: Michèle
authors.initials: M
authors.lastname: Mayer
authors.forename: Michel
authors.initials: M
authors.lastname: Fardeau
authors.forename: Norma B
authors.initials: NB
authors.lastname: Romero
authors.forename: Pascale
authors.initials: P
authors.lastname: Guicheney
mesh_terms: D000293:Adolescent; D017668:Age of Onset; D001942:Breast Feeding; D002648:Child; D002675:Child, Preschool; D034285:Dynamin II / Q000235:genetics*; D004594:Electrophysiology; D005152:Facial Muscles / Q000503:physiopathology; D006579:Heterozygote; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D007866:Leg; D009123:Muscle Hypotonia / Q000150:complications / Q000209:etiology / Q000503:physiopathology; D018908:Muscle Weakness / Q000209:etiology / Q000473:pathology / Q000503:physiopathology; D018482:Muscle, Skeletal / Q000473:pathology / Q000503:physiopathology; D009154:Mutation; D020125:Mutation, Missense; D020914:Myopathies, Structural, Congenital / Q000150:complications / Q000453:epidemiology* / Q000235:genetics* / Q000503:physiopathology; D009886:Ophthalmoplegia / Q000209:etiology
chemical_list: D034285:Dynamin II