Dynamin 2 mutations cause sporadic centronuclear myopathy with neonatal onset.
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.
Bitoun
Marc
M
Institut National de la Sante et de la Recherche Médicale, U582, Institut de Myologie, Paris, France.
Bevilacqua
Jorge A
JA
Prudhon
Bernard
B
Maugenre
Svetlana
S
Taratuto
Ana Lia
AL
Monges
Soledad
S
Lubieniecki
Fabiana
F
Cances
Claude
C
Uro-Coste
Emmanuelle
E
Mayer
Michèle
M
Fardeau
Michel
M
Romero
Norma B
NB
Guicheney
Pascale
P
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
D034285:Dynamin II