CAV3 mutation in a patient with transient hyperCKemia and myalgia.

 
TitleCAV3 mutation in a patient with transient hyperCKemia and myalgia.
Publication TypeJournal Article
Year of Publication2016
AuthorsMacias, A, Gambin, T, Szafranski, P, Jhangiani, SN, Kolasa, A, Obersztyn, E, Lupski, JR, Stankiewicz, P, Kaminska, A
JournalNeurol Neurochir Pol
Volume50
Issue6
Pagination468-473
Date Published2016 Nov - Dec
ISSN0028-3843
Abstract

Mutations in caveolin-3 (CAV3) can lead to different clinical phenotypes affecting skeletal or cardiac muscles. Here, we describe a patient with Klinefelter syndrome, ulcerative colitis and Sjögren syndrome, who developed transient hyperCKemia, myalgia and mild muscular weakness. Using whole exome sequencing (WES), a missense mutation G169A was found in the CAV3 gene. In addition, we identified a homozygous frameshift deletion in MS4A12 that may contribute to inflammatory bowel disease, further demonstrating usefulness of WES in dual molecular diagnoses.

DOI10.1016/j.pjnns.2016.06.008
Alternate JournalNeurol. Neurochir. Pol.
PubMed ID27772553