A Novel Homozygous TBC1D24 Mutation Causing Multifocal Myoclonus With Cerebellar Involvement.
Doummar, Diane
A Novel Homozygous TBC1D24 Mutation Causing Multifocal Myoclonus With Cerebellar Involvement. [electronic resource] - Movement disorders : official journal of the Movement Disorder Society Sep 2015 - 1431-2 p. digital
Publication Type: Case Reports; Letter
1531-8257
10.1002/mds.26303 doi
Carrier Proteins--genetics
Cerebellar Diseases--genetics
Child
Consanguinity
GTPase-Activating Proteins
Humans
Male
Membrane Proteins
Mutation
Myoclonus--genetics
Nerve Tissue Proteins
A Novel Homozygous TBC1D24 Mutation Causing Multifocal Myoclonus With Cerebellar Involvement. [electronic resource] - Movement disorders : official journal of the Movement Disorder Society Sep 2015 - 1431-2 p. digital
Publication Type: Case Reports; Letter
1531-8257
10.1002/mds.26303 doi
Carrier Proteins--genetics
Cerebellar Diseases--genetics
Child
Consanguinity
GTPase-Activating Proteins
Humans
Male
Membrane Proteins
Mutation
Myoclonus--genetics
Nerve Tissue Proteins