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Case Reports

. 2017 Jul 15:378:52-54.

doi: 10.1016/j.jns.2017.04.037. Epub 2017 Apr 23.

Expanding the phenotype of phosphomannomutase-2 gene congenital disorder of glycosylation: Cervical dystonia

Malco Rossi¹, Alex Medina Escobar¹, Lucia Ameghino¹, Marcelo Merello²

Affiliations

Affiliations

¹ Movement Disorders Section, Neuroscience Department, Raul Carrea Institute for Neurological Research (FLENI), Buenos Aires, Argentina.
² Movement Disorders Section, Neuroscience Department, Raul Carrea Institute for Neurological Research (FLENI), Buenos Aires, Argentina; Argentine National Scientific and Technological Research Council (CONICET), Argentina. Electronic address: mmerello@fleni.org.ar.

PMID: 28566178
DOI: 10.1016/j.jns.2017.04.037

Case Reports

Expanding the phenotype of phosphomannomutase-2 gene congenital disorder of glycosylation: Cervical dystonia

Malco Rossi et al. J Neurol Sci. 2017.

. 2017 Jul 15:378:52-54.

doi: 10.1016/j.jns.2017.04.037. Epub 2017 Apr 23.

Authors

Malco Rossi¹, Alex Medina Escobar¹, Lucia Ameghino¹, Marcelo Merello²

Affiliations

¹ Movement Disorders Section, Neuroscience Department, Raul Carrea Institute for Neurological Research (FLENI), Buenos Aires, Argentina.
² Movement Disorders Section, Neuroscience Department, Raul Carrea Institute for Neurological Research (FLENI), Buenos Aires, Argentina; Argentine National Scientific and Technological Research Council (CONICET), Argentina. Electronic address: mmerello@fleni.org.ar.

PMID: 28566178
DOI: 10.1016/j.jns.2017.04.037

No abstract available

Keywords: Ataxia; Cervical dystonia; Congenital disorder glycosylation; Jaeken syndrome.

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