MovDisordV3, Main, Exploration, bibRecord, 005A66

Variable onset of adult inherited focal dystonia: A problem for genetic studies

Identifieur interne : 005A66 ( Main/Exploration ); précédent : 005A65; suivant : 005A67

Variable onset of adult inherited focal dystonia: A problem for genetic studies

Auteurs : S. Micheli [Argentine] ; M. Fernández-Pardal [Argentine] ; P. Quesada [Espagne] ; T. Brannan [Espagne] ; Obeso [Espagne]

Source :

Movement Disorders [ 0885-3185 ] ; 1994.

RBID : ISTEX:163CB85A4D55266457EB46000F5315FDB9D9D559

Descripteurs français

Pascal (Inist)
- Dystonie, Etude familiale, Exploration, Homme, Meige syndrome, Variabilité génétique.
Wicri :
- topic : Génétique, Homme.

English descriptors

KwdEn :
- Adult, Aged, Aged, 80 and over, Blepharospasm (diagnosis), Blepharospasm (genetics), Chromosome Aberrations (diagnosis), Chromosome Aberrations (genetics), Chromosome Disorders, Dystonia, Dystonia Musculorum Deformans (diagnosis), Dystonia Musculorum Deformans (genetics), Exploration, Family study, Female, Genes, Dominant (genetics), Genetic variability, Genetics, Human, Humans, Male, Meige syndrome, Meige's syndrome, Middle Aged, Neurologic Examination, Pedigree, Torticollis (diagnosis), Torticollis (genetics), Tremor (diagnosis), Tremor (genetics), Writer's cramp.
MESH :
- diagnosis : Blepharospasm, Chromosome Aberrations, Dystonia Musculorum Deformans, Torticollis, Tremor.
- genetics : Blepharospasm, Chromosome Aberrations, Dystonia Musculorum Deformans, Genes, Dominant, Torticollis, Tremor.
- Adult, Aged, Aged, 80 and over, Chromosome Disorders, Female, Humans, Male, Middle Aged, Neurologic Examination, Pedigree.

Abstract

We present two families with adult‐onset focal dystonias with marked variability in disease expression, discuss the clinical findings in relation to the literature, and comment on the difficulties in determining the pattern of inheritance.

Url:

https://api.istex.fr/document/163CB85A4D55266457EB46000F5315FDB9D9D559/fulltext/pdf

DOI: 10.1002/mds.870090110

Affiliations:

Argentine, Espagne

Le document en format XML

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<term>Blepharospasm (genetics)</term>
<term>Chromosome Aberrations (diagnosis)</term>
<term>Chromosome Aberrations (genetics)</term>
<term>Chromosome Disorders</term>
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<term>Dystonia Musculorum Deformans (diagnosis)</term>
<term>Dystonia Musculorum Deformans (genetics)</term>
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<term>Genetic variability</term>
<term>Genetics</term>
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<term>Humans</term>
<term>Male</term>
<term>Meige syndrome</term>
<term>Meige's syndrome</term>
<term>Middle Aged</term>
<term>Neurologic Examination</term>
<term>Pedigree</term>
<term>Torticollis (diagnosis)</term>
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<term>Dystonia Musculorum Deformans</term>
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<term>Tremor</term>
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<term>Chromosome Aberrations</term>
<term>Dystonia Musculorum Deformans</term>
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<front><div type="abstract" xml:lang="en">We present two families with adult‐onset focal dystonias with marked variability in disease expression, discuss the clinical findings in relation to the literature, and comment on the difficulties in determining the pattern of inheritance.</div>
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Movement Disorders (revue)

Variable onset of adult inherited focal dystonia: A problem for genetic studies

Variable onset of adult inherited focal dystonia: A problem for genetic studies

Source :

Descripteurs français

English descriptors

Abstract

Links toward previous steps (curation, corpus...)

Le document en format XML

Pour manipuler ce document sous Unix (Dilib)

Pour mettre un lien sur cette page dans le réseau Wicri

	Movement Disorders (revue)
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