Dystonia as Presenting Feature of Compound Heterozygous PMPCA Gene Variants
Mov Disord Clin Pract
.
2023 Apr 27;10(6):1020-1023.
doi: 10.1002/mdc3.13749.
eCollection 2023 Jun.
Authors
Tiziana De Santis
1
,
Valentina Serpieri
2
,
Tommaso Biagini
3
,
Michele Lanotte
4
,
Carlotta Criffò
5
,
Tommaso Mazza
3
,
Enza Maria Valente
2
5
,
Alberto Albanese
1
Affiliations
1
Department of Neurology IRCCS Humanitas Research Hospital Rozzano, Milan Italy.
2
Neurogenetics Research Center IRCCS Mondino Foundation Pavia Italy.
3
Laboratory of Bioinformatics IRCCS Casa Sollievo della Sofferenza San Giovanni Rotondo Italy.
4
Functional Neurosurgery, Department of Neuroscience University of Turin Torino Italy.
5
Department of Molecular Medicine University of Pavia Pavia Italy.
PMID:
37332652
PMCID:
PMC10272896
DOI:
10.1002/mdc3.13749
No abstract available
Keywords:
PMPCA gene variants; ataxia; autosomal recessive transmission; dystonia; phenotype.