From writer's cramp to blepharoclonus: An atypical journey with a novel KMT2B variant

Parkinsonism Relat Disord. 2024 Sep:126:107076. doi: 10.1016/j.parkreldis.2024.107076. Epub 2024 Jul 25.

Authors

Archita Makharia¹, Divyani Garg², Ayush Agarwal¹, Divya M Radhakrishnan¹, Awadh Kishor Pandit¹, Achal Kumar Srivastava¹

Affiliations

¹ Department of Neurology, All India Institute of Medical Sciences, New Delhi, India.
² Department of Neurology, All India Institute of Medical Sciences, New Delhi, India. Electronic address: [email protected].

PMID: 39068760
DOI: 10.1016/j.parkreldis.2024.107076

No abstract available

Publication types

Letter
Case Reports

MeSH terms

Adult
Dystonic Disorders* / genetics
Dystonic Disorders* / physiopathology
Female
Histone-Lysine N-Methyltransferase* / genetics
Humans
Male
Middle Aged
Myeloid-Lymphoid Leukemia Protein / genetics

Substances

Histone-Lysine N-Methyltransferase
KMT2B protein, human
Myeloid-Lymphoid Leukemia Protein