Disease A B C D E F G H I J K L M N O P Q R S T U V W X Y Z [0-9]
Gene A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

Myopathy, centronuclear

OMIM:255200
Mode of inheritance:Autosomal recessive
Disease classification:Diseases of the nervous system


Mutations

Gene SymbolBIN1
Reference transcriptNM_139343.2
DNA Changec.461G>A
A.A. Changep.Arg154Gln
Exon/Intronexon 6
Mutation Typesubstitution
ReferenceClaeys KG, Maisonobe T, B?hm J, Laporte J, Hezode M, Romero NB, Brochier G, Bitoun M, Carlier RY, Stojkovic T.Phenotype of a patient with recessive centronuclear myopathy and a novel BIN1 mutation.
Neurology. 2010 Feb 9;74(6):519-21.