Universität zu Köln

Ceccon, G., Lehmann, H. C., Neuen-Jacob, E., Meng, G., Fink, G. R. and Wunderlich, G. (2017). Therapy-resistant polymyositis - is the diagnosis correct? Z. Rheumatol., 76 (7). S. 640 - 644. HEIDELBERG: SPRINGER HEIDELBERG. ISSN 1435-1250

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Abstract

We report the case of a 32-year-old woman with severely elevated serum creatine kinase (CK; 80,000 U/l) and progressive proximal pareses. As muscular biopsy showed inflammatory infiltrates, polymyositis was suspected and immunosuppressive treatment was initiated. However, clinical improvement could not be achieved. Gene sequencing of the DYSF-gene showed a previously unreported homozygous mutation. In summary, elevated serum CK and inflammatory infiltrates in the muscle biopsy are not specific for polymyositis, but may also occur in degenerative diseases (muscular dystrophy), such as dysferlinopathy.

Item Type:	Journal Article
Creators:	Creators Email ORCID ORCID Put Code Ceccon, G. UNSPECIFIED UNSPECIFIED UNSPECIFIED Lehmann, H. C. UNSPECIFIED UNSPECIFIED UNSPECIFIED Neuen-Jacob, E. UNSPECIFIED UNSPECIFIED UNSPECIFIED Meng, G. UNSPECIFIED UNSPECIFIED UNSPECIFIED Fink, G. R. UNSPECIFIED UNSPECIFIED UNSPECIFIED Wunderlich, G. UNSPECIFIED UNSPECIFIED UNSPECIFIED
URN:	urn:nbn:de:hbz:38-221101
DOI:	10.1007/s00393-017-0326-0
Journal or Publication Title:	Z. Rheumatol.
Volume:	76
Number:	7
Page Range:	S. 640 - 644
Date:	2017
Publisher:	SPRINGER HEIDELBERG
Place of Publication:	HEIDELBERG
ISSN:	1435-1250
Language:	English
Faculty:	Unspecified
Divisions:	Unspecified
Subjects:	no entry
Uncontrolled Keywords:	Keywords Language Rheumatology Multiple languages
Refereed:	Yes
URI:	http://kups.ub.uni-koeln.de/id/eprint/22110