Molecular genetic and mitochondrial metabolic analyses confirm the suspected mitochondrial etiology in a pediatric patient with an atypical form of alternating hemiplegia of childhood.
Deep sequencing of mitochondrial genome
Genotype-phenotype correlation
Mitochondrial bioenergetic capacity
Oligogenic inheritance
Whole exome sequencing
Journal
Molecular genetics and metabolism reports
ISSN: 2214-4269
Titre abrégé: Mol Genet Metab Rep
Pays: United States
ID NLM: 101624422
Informations de publication
Date de publication:
Sep 2020
Sep 2020
Historique:
received:
21
05
2020
accepted:
21
05
2020
entrez:
4
6
2020
pubmed:
4
6
2020
medline:
4
6
2020
Statut:
epublish
Résumé
Alternative hemiplegia of childhood (AHC) is a rare neurodevelopmental disorder with an extensive phenotypic variability, resulting in a challenging clinical diagnosis. About 75% of AHC cases are caused by pathogenic variants mapping in the
Identifiants
pubmed: 32489883
doi: 10.1016/j.ymgmr.2020.100609
pii: S2214-4269(20)30055-0
pii: 100609
pmc: PMC7262444
doi:
Types de publication
Journal Article
Langues
eng
Pagination
100609Informations de copyright
© 2020 The Authors.
Déclaration de conflit d'intérêts
The authors declare that they have no conflict of interest.
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