H-ABC syndrome and DYT4: Variable expressivity or pleiotropy of TUBB4 mutations?

Erro, Roberto

H-ABC syndrome and DYT4: Variable expressivity or pleiotropy of TUBB4 mutations? [electronic resource] - Movement disorders : official journal of the Movement Disorder Society May 2015 - 828-33 p. digital

Publication Type: Case Reports; Journal Article

1531-8257

10.1002/mds.26129 doi


Adult
Basal Ganglia--pathology
Cerebellum--pathology
Dystonia Musculorum Deformans--genetics
Exons
Female
Genetic Pleiotropy
Heterozygote
Humans
Leukoencephalopathies--genetics
Male
Mutation
Phenotype
Tubulin--genetics
Voice Disorders--congenital