Early-onset oromandibular-laryngeal dystonia and Charlot gait: New phenotype of DYT-KMT2B

Neurology. 2019 May 7;92(19):919. doi: 10.1212/WNL.0000000000007469.

Authors

Ana Brás¹, Joana Afonso Ribeiro², Filipe Sobral², Fradique Moreira², Ana Morgadinho², Cristina Januário²

Affiliations

¹ From the Neurology Department, Coimbra University Hospital Center, Portugal. [email protected].
² From the Neurology Department, Coimbra University Hospital Center, Portugal.

PMID: 31061210
DOI: 10.1212/WNL.0000000000007469

No abstract available

Publication types

Case Reports

MeSH terms

Adult
Disease Progression
Dystonic Disorders / genetics*
Gait / genetics
Gait Disorders, Neurologic / genetics*
Histone-Lysine N-Methyltransferase / genetics*
Humans
Laryngeal Diseases / genetics*
Male

Substances

Histone-Lysine N-Methyltransferase
KMT2B protein, human