A new centronuclear myopathy phenotype due to a novel dynamin 2 mutation.
Bitoun
M
M
INSERM U582, Institut de Myologie, Groupe Hospitalier Pitié-Salpêtrière, 75013, Paris, France. m.bitoun@institut-myologie.org
Bevilacqua
J A
JA
Eymard
B
B
Prudhon
B
B
Fardeau
M
M
Guicheney
P
P
Romero
N B
NB
D000328:Adult; D004252:DNA Mutational Analysis; D034285:Dynamin II / Q000235:genetics*; D005260:Female; D006801:Humans; D018482:Muscle, Skeletal / Q000473:pathology; D009154:Mutation / Q000235:genetics*; D020914:Myopathies, Structural, Congenital / Q000235:genetics* / Q000473:pathology; D010641:Phenotype
D034285:Dynamin II