Epiphyseal dysplasia, multiple, 3, with myopathy

MedGen UID:: 463433
•Concept ID:: C3152083
•: Disease or Syndrome

Synonym:	EPIPHYSEAL DYSPLASIA, MULTIPLE, 3, WITH MYOPATHY

OMIM®:	120270; 600969

Recent clinical studies

Etiology

The utility of mouse models to provide information regarding the pathomolecular mechanisms in human genetic skeletal diseases: The emerging role of endoplasmic reticulum stress (Review).

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: 25824717 Free PMC Article

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Prognosis

A mutation in the alpha 3 chain of type IX collagen causes autosomal dominant multiple epiphyseal dysplasia with mild myopathy.

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. doi: 10.1073/pnas.97.3.1212. PMID: 10655510 Free PMC Article

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Clinical prediction guides

A mutation in the alpha 3 chain of type IX collagen causes autosomal dominant multiple epiphyseal dysplasia with mild myopathy.

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Epiphyseal dysplasia, multiple, 3, with myopathy

Recent clinical studies

Etiology

Prognosis

Clinical prediction guides

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