Prolonged Episodic Dystonia in Tyrosine Hydroxylase Deficiency Due to Homozygous c.698G>A (p.Arg233His) Mutation-A Diagnostic Challenge
Mov Disord Clin Pract
.
2022 Aug 10;9(8):1136-1139.
doi: 10.1002/mdc3.13522.
eCollection 2022 Nov.
Authors
Samhita Panda
1
,
Saksham Jain
1
,
Dhwani Dholakia
2
,
Bharath Ram Uppilli
2
,
Mohammed Faruq
2
Affiliations
1
Departments of Neurology All India Institute of Medical Sciences Jodhpur India.
2
Genomics and Molecular Medicine CSIR-Institute of Genomics and Integrative Biology Delhi India.
PMID:
36339310
PMCID:
PMC9631854
DOI:
10.1002/mdc3.13522
No abstract available
Keywords:
childhood‐onset; dopa responsive dystonia; episodic; misdiagnosis; movement disorder.