Inflammatory myopathy in a patient with collagen VI mutations

R PapaPediatric Rheumatology Unit, Giannina Gaslini Institute, Genoa, ItalyCorrespondence[email protected]

C FiorilloPediatric Neurology and Muscle Disease Unit, Giannina Gaslini Institute, Genoa, Italy

C MalattiaPediatric Rheumatology Unit, Giannina Gaslini Institute, Genoa, Italy

F MinoiaPediatric Rheumatology Unit, Giannina Gaslini Institute, Genoa, Italy

R CaorsiPediatric Rheumatology Unit, Giannina Gaslini Institute, Genoa, Italy

S AsseretoPediatric Neurology and Muscle Disease Unit, Giannina Gaslini Institute, Genoa, Italy

M IacominoPediatric Neurology and Muscle Disease Unit, Giannina Gaslini Institute, Genoa, Italy

M SavareseTelethon Institute of Genetics and Medicine, Pozzuoli, Naples, Italy

V NigroTelethon Institute of Genetics and Medicine, Pozzuoli, Naples, Italy

C BrunoCenter of Myology and Neurodegenerative Disorders, Giannina Gaslini Institute, Genoa, Italy

C MinettiPediatric Neurology and Muscle Disease Unit, Giannina Gaslini Institute, Genoa, Italy

P PiccoPediatric Rheumatology Unit, Giannina Gaslini Institute, Genoa, Italy

show all

References

Dalakas MC. Inflammatory muscle diseases. N Engl J Med 2015;372:1734–47.
PubMed Web of Science ®Google Scholar
Savarese M, Di Fruscio G, Torella A, Fiorillo C, Magri F, Fanin M, et al. The genetic basis of undiagnosed muscular dystrophies and myopathies: results from 504 patients. Neurology 2016;87:71–6.
PubMed Web of Science ®Google Scholar
Butterfield RJ, Foley AR, Dastgir J, Asman S, Dunn DM, Zou Y, et al. Position of glycine substitutions in the triple helix of COL6A1, COL6A2, and COL6A3 is correlated with severity and mode of inheritance in collagen VI myopathies. Hum Mutat 2013;34:1558e67.
Web of Science ®Google Scholar
Hicks D, Lampe AK, Barresi R, Charlton R, Fiorillo C, Bonnemann CG, et al. A refined diagnostic algorithm for Bethlem myopathy. Neurology 2008;70:1192–9.
PubMed Web of Science ®Google Scholar
Paco S, Kalko SG, Jou C, Rodriguez MA, Corbera J, Muntoni F, et al. Gene expression profiling identifies molecular pathways associated with collagen VI deficiency and provides novel therapeutic targets. PLoS One 2013;8:e77430.
PubMed Web of Science ®Google Scholar
Ginsberg L, Malik O, Kenton AR, Sharp D, Muddle JR, Davis MB, et al. Coexistent hereditary and inflammatory neuropathy. Brain 2004;127:193–202.
PubMed Web of Science ®Google Scholar

Reprints and Corporate Permissions

Please note: Selecting permissions does not provide access to the full text of the article, please see our help page How do I view content?

To request a reprint or corporate permissions for this article, please click on the relevant link below:

Order Reprints Request Corporate Permissions

Academic Permissions

Please note: Selecting permissions does not provide access to the full text of the article, please see our help page How do I view content?

Obtain permissions instantly via Rightslink by clicking on the button below:

Request Academic Permissions

If you are unable to obtain permissions via Rightslink, please complete and submit this Permissions form. For more information, please visit our Permissions help page.

Inflammatory myopathy in a patient with collagen VI mutations

References

Information for

Open access

Opportunities

Help and information

Your download is now in progress and you may close this window

Login or register to access this feature

Inflammatory myopathy in a patient with collagen VI mutations

References

Reprints and Corporate Permissions

Academic Permissions

Related research

To cite this article:

Download citation

Information for

Open access

Opportunities

Help and information

Keep up to date