CAV3 mutation in a patient with transient hyperCKemia and myalgia
Anna Macias , Tomasz Gambin , Przemyslaw Szafranski , Shalini N. Jhangiani , Anna Kolasa , Ewa Obersztyn , James R. Lupski , Pawel Stankiewicz , Anna Kaminska
AbstractMutations 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.
|Journal series||Neurologia i Neurochirurgia Polska, ISSN 0028-3843|
|Publication size in sheets||0.5|
|Keywords in English||Caveolin-3;Caveolinopathy;Limb-girdle muscular dystrophy; LGMD1C|
|Project||Development of new algorithms in the areas of software and computer architecture, artificial intelligence and information systems and computer graphics . Project leader: Rybiński Henryk,
, Phone: +48 22 234 7731, start date 18-05-2015, end date 30-11-2016, II/2015/DS/1, Completed
|Score|| = 15.0, 15-05-2020, ArticleFromJournal|
= 15.0, 15-05-2020, ArticleFromJournal
|Publication indicators||= 1; = 1; = 1.0; : 2016 = 0.454; : 2016 = 0.857 (2) - 2016=0.774 (5)|
|Citation count*||2 (2020-07-27)|
* presented citation count is obtained through Internet information analysis and it is close to the number calculated by the Publish or Perish system.