Characteristic muscle signatures assessed by quantitative MRI in patients with Bethlem myopathy-Reference-Cited by-同舟云学术

Characteristic muscle signatures assessed by quantitative MRI in patients with Bethlem myopathy

Published:2020-05-03 Issue:8 Volume:267 Page:2432-2442
ISSN:0340-5354
Container-title:Journal of Neurology
language:en
Short-container-title:J Neurol

Author:

Salim Ruth^ORCID,Dahlqvist Julia Rebecka,Khawajazada Tahmina,Kass Konni,Revsbech Karoline Lolk,de Stricker Borch Josefine,Munawar Sheikh Aisha,Vissing John

Funder

Fonden til Lægevidenskabens Fremme

Publisher

Springer Science and Business Media LLC

Subject

Clinical Neurology,Neurology

Link

https://link.springer.com/content/pdf/10.1007/s00415-020-09860-x.pdf

Reference24 articles.

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2. Lampe AK, Dunn DM, von Niederhausern AC, Hamil C, Aoyagi A, Laval SH et al (2005) Automated genomic sequence analysis of the three collagen VI genes: applications to Ullrich congenital muscular dystrophy and Bethlem myopathy. J Med Genet 42(2):108–120

3. Miscione MT, Bruno F, Ripamonti C, Nervuti G, Orsini R, Faldini C et al (2013) Body composition, muscle strength, and physical function of patient with Bethlem myopathy and Ullrich congenital muscular dystrophy. Sci World J. https://doi.org/10.1155/2013/152684

4. Jöbsis GJ, Boers JM, Barth PG, de Visser M (1999) Bethlem myopathy: a slowly progressive congenital muscular dystrophy with contractures. Brain 122(Pt4):649–655

5. Yonekawa T, Nishino I (2015) Ullrich congenital muscular dystrophy: clinicopathological features, natural history and pathomechanism(s). J Neurol Neurosurg Psychiatry 86(3):280–287. https://doi.org/10.1136/jnnp-2013-307052(Epub 2014)

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