|Title||CAV3 mutation in a patient with transient hyperCKemia and myalgia.|
|Publication Type||Journal Article|
|Year of Publication||2016|
|Authors||Macias, A, Gambin, T, Szafranski, P, Jhangiani, SN, Kolasa, A, Obersztyn, E, Lupski, JR, Stankiewicz, P, Kaminska, A|
|Journal||Neurol Neurochir Pol|
|Date Published||2016 Nov - Dec|
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.
|Alternate Journal||Neurol. Neurochir. Pol.|