Late-onset KMT2B-related dystonia in an Indian patient with normal cognition, dystonic opisthotonus and lack of oromandibular and laryngeal involvement

Parkinsonism Relat Disord. 2020 May:74:33-35. doi: 10.1016/j.parkreldis.2020.03.015. Epub 2020 Apr 14.

Authors

Sanjay Pandey¹, Sonali Bhattad², Ashwin Kumar Panda², Lakshmi Mahadevan³

Affiliations

¹ Department of Neurology, Govind Ballabh Pant Postgraduate Institute of Medical Education and Research, New Delhi, 110002, India. Electronic address: sanjaysgpgi2002@yahoo.co.in.
² Department of Neurology, Govind Ballabh Pant Postgraduate Institute of Medical Education and Research, New Delhi, 110002, India.
³ Medgenome Labs Ltd., Bengaluru, 560099, India.

PMID: 32305686
DOI: 10.1016/j.parkreldis.2020.03.015

No abstract available

Keywords: Dystonia; Gene.

Publication types

Case Reports
Letter

MeSH terms

Adult
Dystonic Disorders / diagnosis
Dystonic Disorders / genetics*
Dystonic Disorders / pathology
Dystonic Disorders / physiopathology*
Histone-Lysine N-Methyltransferase / genetics*
Humans
India
Magnetic Resonance Imaging
Male
Young Adult

Substances

Histone-Lysine N-Methyltransferase
KMT2B protein, human