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Article

Pediatric Onset of Generalized Dystonia, Cognitive Impairment, and Dysmorphic Features in a Patient Carrying Compound Heterozygous GNAL Mutations.

Movement disorders clinical practice - 1 Aug 2024

Magistrelli Luca, Contaldi Elena, Piola Beatrice, Caushi Fjorilda, Carecchio Miryam, D'Alfonso Sandra, Corrado Lucia

Abstract excerpt

No abstract is available from the source.

Topics

Humans
Cognitive Dysfunction
Mutation
Chromogranins
Dystonic Disorders
Dystonia
Male
Female
Child
Heterozygote
GTP-Binding Protein alpha Subunits

Source

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Identifiers

PMID: 38850091
DOI: 10.1002/mdc3.14124
PMCID: PMC11329568

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 31 Aug 2026.

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Pediatric Onset of Generalized Dystonia, Cognitive Impairment, and Dysmorphic Features in a Patient Carrying Compound Heterozygous GNAL Mutations.PMID 38850091Read ↗

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