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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_doaj_primary_oai_doaj_org_article_1906381dd04649d8bd4788e87693d089

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

United States: Columbia University Libraries/Information Services

Journal title

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

Language

English

Formats

Publication information

Publisher

United States: Columbia University Libraries/Information Services

More information

Scope and Contents

Contents

MEGDEL syndrome (3-MethylGlutaconic aciduria, Deafness, Encephalopathy, Leigh-like syndrome) is a severe neurometabolic disease with infantile onset.
Progressive and marked dystonia over a 6-year period in an adult male with MEGDEL syndrome.
Generalized dystonia may be the main manifestation of a milder form of MEGDEL syndrome, which begins d...

Alternative Titles

Full title

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

Identifiers

Primary Identifiers

Record Identifier

TN_cdi_doaj_primary_oai_doaj_org_article_1906381dd04649d8bd4788e87693d089

Permalink

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_1906381dd04649d8bd4788e87693d089

Other Identifiers

ISSN

2160-8288

E-ISSN

2160-8288

DOI

10.7916/D8VM5VBQ

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