Mutations in dynamin 2 cause dominant centronuclear myopathy.
Autosomal dominant centronuclear myopathy is a rare congenital myopathy characterized by delayed motor milestones and muscular weakness. In 11 families affected by centronuclear myopathy, we identified recurrent and de novo missense mutations in the gene dynamin 2 (DNM2, 19p13.2), which encodes a protein involved in endocytosis and membrane trafficking, actin assembly and centrosome cohesion. The transfected mutants showed reduced labeling in the centrosome, suggesting that DNM2 mutations might cause centronuclear myopathy by interfering with centrosome function.
Bitoun
Marc
M
INSERM U582, Institute of Myology, IFR14, Groupe Hospitalier Pitié-Salpêtrière, UPMC, 47 Boulevard de l'Hôpital, 75651 Paris Cedex 13, France.
Maugenre
Svetlana
S
Jeannet
Pierre-Yves
PY
Lacène
Emmanuelle
E
Ferrer
Xavier
X
Laforêt
Pascal
P
Martin
Jean-Jacques
JJ
Laporte
Jocelyn
J
Lochmüller
Hanns
H
Beggs
Alan H
AH
Fardeau
Michel
M
Eymard
Bruno
B
Romero
Norma B
NB
Guicheney
Pascale
P
D000199:Actins; D002462:Cell Membrane / Q000378:metabolism; D018385:Centrosome / Q000378:metabolism; D034285:Dynamin II / Q000235:genetics*; D004705:Endocytosis; D005260:Female; D005799:Genes, Dominant; D006801:Humans; D008297:Male; D020125:Mutation, Missense / Q000235:genetics*; D020914:Myopathies, Structural, Congenital / Q000235:genetics*; D020641:Polymorphism, Single Nucleotide / Q000235:genetics; D017422:Sequence Analysis, DNA
D000199:Actins; D034285:Dynamin II