| 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 |
| Volume | 50 |
| Issue | 6 |
| Pagination | 468-473 |
| Date Published | 2016 Nov-Dec |
| ISSN | 0028-3843 |
| Keywords | Caveolin 3, Colitis, Ulcerative, Creatine Kinase, Frameshift Mutation, Humans, Klinefelter Syndrome, Magnetic Resonance Imaging, Male, Membrane Proteins, Middle Aged, Muscle, Skeletal, Muscular Diseases, Mutation, Missense, Myalgia, Phenotype, Sjogren's Syndrome, Thigh |
| 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.
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| DOI | 10.1016/j.pjnns.2016.06.008 |
| Alternate Journal | Neurol Neurochir Pol |
| PubMed ID | 27772553 |