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myopathy, centronuclear
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Lysosome Vesicle Biogenesis
species not specified
one gene
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DNM2
Dynamin genes Dnm1 and Dnm2 are located on proximal mouse chromosomes 2 and 9, respectively
MYF6
Heterozygous myogenic factor 6 mutation associated with myopathy and severe course of Becker muscular dystrophy
BIN1
Mutations in amphiphysin 2 (BIN1) disrupt interaction with dynamin 2 and cause autosomal recessive centronuclear myopathy
Cancer Gene Census
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DNM2
Somatic tumors
T-ALL
Tumor types germline
Cancer Syndrom
Translocation partner
Name
dynamin 2
Chromosome banding
19p13.2
Cancer molecular gen.
Rec
Mutation type
F, N, S, Mis, O
Other syndrome disease
Charcot-Marie-Tooth disease, centronuclear myopathy, lethal congenital contracture syndrome 5
Definition
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