Phenotype of a patient with recessive centronuclear myopathy and a novel BIN1 mutation.
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
K G
KG
Claeys
T
T
Maisonobe
J
J
Böhm
J
J
Laporte
M
M
Hezode
N B
NB
Romero
G
G
Brochier
M
M
Bitoun
R Y
RY
Carlier
T
T
Stojkovic
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