Unusual multisystemic involvement and a novel BAG3 mutation revealed by NGS screening in a large cohort of myofibrillar myopathies-Reference-Cited by-同舟云学术

Unusual multisystemic involvement and a novel BAG3 mutation revealed by NGS screening in a large cohort of myofibrillar myopathies

Published:2014-08-01 Issue:1 Volume:9 Page:
ISSN:1750-1172
Container-title:Orphanet Journal of Rare Diseases
language:en
Short-container-title:Orphanet J Rare Dis

Author:

Semmler Anna-Lena,Sacconi Sabrina,Bach J Elisa,Liebe Claus,Bürmann Jan,Kley Rudolf A,Ferbert Andreas,Anderheiden Roland,Van den Bergh Peter,Martin Jean-Jacques,De Jonghe Peter,Neuen-Jacob Eva,Müller Oliver,Deschauer Marcus,Bergmann Markus,Schröder J Michael,Vorgerd Matthias,Schulz Jörg B,Weis Joachim,Kress Wolfram,Claeys Kristl G

Publisher

Springer Science and Business Media LLC

Subject

Pharmacology (medical),Genetics (clinical),General Medicine

Link

http://link.springer.com/content/pdf/10.1186/s13023-014-0121-9.pdf

Reference61 articles.

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2. Nakano S, Engel AG, Waclawik AJ, Emslie-Smith AM, Busis NA: Myofibrillar myopathy with abnormal foci of desmin positivity. I. Light and electron microscopy analysis of 10 cases. J Neuropathol Exp Neurol. 1996, 55: 549-562.

3. Selcen D, Ohno K, Engel AG: Myofibrillar myopathy: clinical, morphological and genetic studies in 63 patients. Brain. 2004, 127: 439-451. 10.1093/brain/awh052.

4. Olive M, Goldfarb LG, Shatunov A, Fischer D, Ferrer I: Myotilinopathy: refining the clinical and myopathological phenotype. Brain. 2005, 128: 2315-2326. 10.1093/brain/awh576.

5. Schroder R, Vrabie A, Goebel HH: Primary desminopathies. J Cell Mol Med. 2007, 11: 416-426. 10.1111/j.1582-4934.2007.00057.x.

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