Phenotype of a patient with recessive centronuclear myopathy and a novel BIN1 mutation.
Claeys
K G
KG
Groupe Hospitalier Pitié-Salpêtrière, Institut de Myologie, Unité de Morphologie Neuromusculaire (Pavillon Risler), 47-83, Boulevard de l'Hôpital, 75651 Paris Cedex 13, France. k.claeys@institut-myologie.org
Maisonobe
T
T
Böhm
J
J
Laporte
J
J
Hezode
M
M
Romero
N B
NB
Brochier
G
G
Bitoun
M
M
Carlier
R Y
RY
Stojkovic
T
T
D048868:Adaptor Proteins, Signal Transducing / Q000235:genetics*; D005192:Family Health; D006801:Humans; D008297:Male; D020914:Myopathies, Structural, Congenital / Q000235:genetics*; D009687:Nuclear Proteins / Q000235:genetics*; D010641:Phenotype; D025521:Tumor Suppressor Proteins / Q000235:genetics*; D055815:Young Adult
D048868:Adaptor Proteins, Signal Transducing; C101410:BIN1 protein, human; D009687:Nuclear Proteins; D025521:Tumor Suppressor Proteins