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Adult-onset Generalized Dystonia as the Main Manifestation of MEGDEL Syndrome

Adult-onset Generalized Dystonia as the Main Manifestation of MEGDEL Syndrome

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_proquest_journals_3095104588

Adult-onset Generalized Dystonia as the Main Manifestation of MEGDEL Syndrome

About this item

Full title

Adult-onset Generalized Dystonia as the Main Manifestation of MEGDEL Syndrome

Publisher

Dallas: Ubiquity Press

Journal title

Tremor and other hyperkinetic movements (New York, N.Y.), 2018-04, Vol.8, p.554

Language

English

Formats

Publication information

Publisher

Dallas: Ubiquity Press

More information

Scope and Contents

Contents

Background: MEGDEL syndrome (3-MethylGlutaconic aciduria, Deafness, Encephalopathy, Leigh-like syndrome) is a severe neurometabolic disease with infantile onset.Phenomenology Shown: Progressive and marked dystonia over a 6-year period in an adult male with MEGDEL syndrome.Educational Value: Generalized dystonia may be the main manifestation of a mi...

Alternative Titles

Full title

Adult-onset Generalized Dystonia as the Main Manifestation of MEGDEL Syndrome

Identifiers

Primary Identifiers

Record Identifier

TN_cdi_proquest_journals_3095104588

Permalink

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_proquest_journals_3095104588

Other Identifiers

ISSN

2160-8288

E-ISSN

2160-8288

DOI

10.5334/tohm.445

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