Mild functional differences of dynamin 2 mutations associated to centronuclear myopathy and charcot-marie-tooth peripheral neuropathy

PLoS ONE

Volumn 6, Issue 11, 2011, Pages

  Koutsopoulos, Olga S ^a,b,c   Koch, Catherine ^a,b,c   Tosch, Valerie ^a,b,c   Böhm, Johann ^a,b,c   North, Kathryn N ^d,e   Laporte, Jocelyn ^a,b,c  

^a INSTITUT DE GÉNÉTIQUE ET DE BIOLOGIE MOLÉCULAIRE ET CELLULAIRE   (France)

^b INSERM   (France)

^c UNIVERSITÉ DE STRASBOURG   (France)

^d CHILDREN S HOSPITAL AT WESTMEAD   (Australia)

^e University of Sydney   (Australia)

Author keywords

[No Author keywords available]

Indexed keywords

AMPHIPHYSIN; CLATHRIN; DYNAMIN II; DYNAMIN I; TRANSFERRIN;

ARTICLE; BIN1 GENE; CELL STRUCTURE; CENTRONUCLEAR MYOPATHY; CENTROSOME; CONTROLLED STUDY; DISEASE ASSOCIATION; DNM1 GENE; DNM2 GENE; ENDOCYTOSIS; FIBROBLAST; GENE; GENE EXPRESSION; GENE MUTATION; GENETIC ASSOCIATION; GOLGI COMPLEX; HEREDITARY MOTOR SENSORY NEUROPATHY; HUMAN; HUMAN CELL; MICROTUBULE; PATHOGENESIS; PROTEIN FUNCTION; PROTEIN INTERACTION; WILD TYPE; ANIMAL; CELL CULTURE; CELL STRAIN COS1; CERCOPITHECUS; FLOW CYTOMETRY; FLUORESCENT ANTIBODY TECHNIQUE; GENETICS; METABOLISM; MUTATION; MYOPATHY; PHENOTYPE;

ANIMALS; CELLS, CULTURED; CERCOPITHECUS AETHIOPS; CHARCOT-MARIE-TOOTH DISEASE; COS CELLS; DYNAMIN I; DYNAMIN II; FLOW CYTOMETRY; FLUORESCENT ANTIBODY TECHNIQUE; HUMANS; MICROTUBULES; MUTATION; MYOPATHIES, STRUCTURAL, CONGENITAL; PHENOTYPE; TRANSFERRIN;

EID: 80855156748     PISSN: None     EISSN: 19326203     Source Type: Journal    
DOI: 10.1371/journal.pone.0027498     Document Type: Article

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