Molecular genetic and mitochondrial metabolic analyses confirm the suspected mitochondrial etiology in a pediatric patient with an atypical form of alternating hemiplegia of childhood.
Document Type
Journal Article
Publication Date
9-1-2020
Journal
Mol Genet Metab Rep
Volume
24
DOI
10.1016/j.ymgmr.2020.100609
Abstract
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
APA Citation
Gropman, A., Uittenbogaard, M., Brantner, C., Wang, Y., Wong, L., & Chiaramello, A. (2020). Molecular genetic and mitochondrial metabolic analyses confirm the suspected mitochondrial etiology in a pediatric patient with an atypical form of alternating hemiplegia of childhood.. Mol Genet Metab Rep, 24 (). http://dx.doi.org/10.1016/j.ymgmr.2020.100609
Peer Reviewed
1
Open Access
1
Comments
This is an open access PubMed Central article.