Journal article
Altered PLP1 splicing causes hypomyelination of early myelinating structures
Abstract
OBJECTIVE: The objective of this study was to investigate the genetic etiology of the X-linked disorder "Hypomyelination of Early Myelinating Structures" (HEMS).
METHODS: We included 16 patients from 10 families diagnosed with HEMS by brain MRI criteria. Exome sequencing was used to search for causal mutations. In silico analysis of effects of the mutations on splicing and RNA folding was performed. In vitro gene splicing was examined in RNA …
Authors
Kevelam SH; Taube JR; van Spaendonk RML; Bertini E; Sperle K; Tarnopolsky M; Tonduti D; Valente EM; Travaglini L; Sistermans EA
Journal
Annals of Clinical and Translational Neurology, Vol. 2, No. 6, pp. 648–661
Publisher
Wiley
Publication Date
June 2015
DOI
10.1002/acn3.203
ISSN
2328-9503