open access

Vol 50, No 6 (2016)
Case reports
Submitted: 2015-11-10
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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
DOI: 10.1016/j.pjnns.2016.06.008
·
Neurol Neurochir Pol 2016;50(6):468-473.

open access

Vol 50, No 6 (2016)
Case reports
Submitted: 2015-11-10

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.

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.

Get Citation

Keywords

Caveolin-3, Caveolinopathy, Limb-girdle muscular dystrophy, LGMD1C

About this article
Title

CAV3 mutation in a patient with transient hyperCKemia and myalgia

Journal

Neurologia i Neurochirurgia Polska

Issue

Vol 50, No 6 (2016)

Pages

468-473

DOI

10.1016/j.pjnns.2016.06.008

Bibliographic record

Neurol Neurochir Pol 2016;50(6):468-473.

Keywords

Caveolin-3
Caveolinopathy
Limb-girdle muscular dystrophy
LGMD1C

Authors

Anna Macias
Tomasz Gambin
Przemyslaw Szafranski
Shalini N. Jhangiani
Anna Kolasa
Ewa Obersztyn
James R. Lupski
Pawel Stankiewicz
Anna Kaminska

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