Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

ADCY5-related dyskinesia presenting as familial myoclonus-dystonia.

Neurogenetics - 1 Apr 2017

Douglas Andrew G L, Andreoletti Gaia, Talbot Kevin, Hammans Simon R, Singh Jaspal, Whitney Andrea, Ennis Sarah, Foulds Nicola C

Abstract excerpt

We describe a family with an autosomal dominant familial dyskinesia resembling myoclonus-dystonia associated with a novel missense mutation in ADCY5, found through whole-exome sequencing. A tiered analytical approach was used to analyse whole-exome sequencing data from an affected grandmother-granddaughter pair. Whole-exome sequencing identified 18,000 shared variants, of which 46 were non-synonymous changes not...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Child, Preschool
Share to Adenylyl Cyclases

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Adolescent

Share to Dyskinesias

Share to Dystonic Disorders

Share to Family

Share to Mutation, Missense

Share to Pedigree

Source

Open in PubMed Open full text

Identifiers

PMID: 28229249
DOI: 10.1007/s10048-017-0510-z
PMCID: PMC5359383

Genes

ADCY5

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 3 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

ADCY5-related dyskinesia presenting as familial myoclonus-dystonia.PMID 28229249Read ↗

Autosomal recessive ADCY5-Related dystonia and myoclonus: Expanding the genetic spectrum of ADCY5-Related movement disordersSemantic proximity Read ↗

ADCY5-related dyskinesia - case series with literature review.Semantic proximity Read ↗

Homozygous ADCY5 mutation causes early-onset movement disorder with severe intellectual disability.Semantic proximity Read ↗

Autosomal dominant familial dyskinesia and facial myokymia: single exome sequencing identifies a mutation in adenylyl cyclase 5.Semantic proximity Read ↗

ADCY5-related dyskinesia: Broader spectrum and genotype-phenotype correlations.Semantic proximity Read ↗

Clinical exome sequencing in early-onset generalized dystonia and large-scale resequencing follow-up.Semantic proximity Read ↗

A de novo ADCY5 mutation causes early-onset autosomal dominant chorea and dystonia.Semantic proximity Read ↗

Gain‐of‐function ADCY5 mutations in familial dyskinesia with facial myokymiaSemantic proximity Read ↗

Molecular diversity of combined and complex dystonia: insights from diagnostic exome sequencing.Semantic proximity Read ↗

ADCY5 mutations are another cause of benign hereditary chorea.Semantic proximity Read ↗

Genetic Diversity and Expanded Phenotypes in Dystonia: Insights From Large-Scale Exome Sequencing.Semantic proximity Read ↗

Expanding the ADCY5 phenotype toward spastic paraparesisSemantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.