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Epiphyseal Dysplasia, Multiple, with Myopathy

MedGen UID:
502302
Concept ID:
C3501899
Disease or Syndrome
 

Recent clinical studies

Etiology

Briggs MD, Bell PA, Pirog KA
Int J Mol Med 2015 Jun;35(6):1483-92. Epub 2015 Mar 30 doi: 10.3892/ijmm.2015.2158. PMID: 25824717Free PMC Article
Damignani R, Young NL, Cole WG, Anthony AM, Badley EM
Arch Phys Med Rehabil 2004 Oct;85(10):1647-52. PMID: 15468025

Diagnosis

Engelmann G, Meyburg J, Shahbek N, Al-Ali M, Hairetis MH, Baker AJ, Rodenburg RJ, Wenning D, Flechtenmacher C, Ellard S, Smeitink JA, Hoffmann GF, Buchanan CR
J Inherit Metab Dis 2008 Aug;31(4):540-6. Epub 2008 Aug 16 doi: 10.1007/s10545-008-0867-0. PMID: 18704764
Unger S, Bonafé L, Superti-Furga A
Best Pract Res Clin Rheumatol 2008 Mar;22(1):19-32. doi: 10.1016/j.berh.2007.11.009. PMID: 18328978

Prognosis

Engelmann G, Meyburg J, Shahbek N, Al-Ali M, Hairetis MH, Baker AJ, Rodenburg RJ, Wenning D, Flechtenmacher C, Ellard S, Smeitink JA, Hoffmann GF, Buchanan CR
J Inherit Metab Dis 2008 Aug;31(4):540-6. Epub 2008 Aug 16 doi: 10.1007/s10545-008-0867-0. PMID: 18704764
Unger S, Bonafé L, Superti-Furga A
Best Pract Res Clin Rheumatol 2008 Mar;22(1):19-32. doi: 10.1016/j.berh.2007.11.009. PMID: 18328978
Nishimura G, Honma T, Shiihara T, Manabe N, Nakajima E, Adachi M, Mikawa M, Fukushima Y, Ikegawa S
Am J Med Genet A 2003 Mar 1;117A(2):147-53. doi: 10.1002/ajmg.a.10927. PMID: 12567412
Bönnemann CG, Cox GF, Shapiro F, Wu JJ, Feener CA, Thompson TG, Anthony DC, Eyre DR, Darras BT, Kunkel LM
Proc Natl Acad Sci U S A 2000 Feb 1;97(3):1212-7. PMID: 10655510Free PMC Article

Clinical prediction guides

Damignani R, Young NL, Cole WG, Anthony AM, Badley EM
Arch Phys Med Rehabil 2004 Oct;85(10):1647-52. PMID: 15468025
Bönnemann CG, Cox GF, Shapiro F, Wu JJ, Feener CA, Thompson TG, Anthony DC, Eyre DR, Darras BT, Kunkel LM
Proc Natl Acad Sci U S A 2000 Feb 1;97(3):1212-7. PMID: 10655510Free PMC Article

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