Case Reports
doi: 10.1002/ajmg.a.31899.
Ehlers-Danlos syndrome due to tenascin-X deficiency: muscle weakness and contractures support overlap with collagen VI myopathies
- PMID: 17702048
- DOI: 10.1002/ajmg.a.31899
Item in Clipboard
Case Reports
Ehlers-Danlos syndrome due to tenascin-X deficiency: muscle weakness and contractures support overlap with collagen VI myopathies
Am J Med Genet A.
.
No abstract available
Comment on
-
Ullrich congenital muscular dystrophy: connective tissue abnormalities in the skin support overlap with Ehlers-Danlos syndromes.Am J Med Genet A. 2005 Jan 30;132A(3):296-301. doi: 10.1002/ajmg.a.30443. Am J Med Genet A. 2005. PMID: 15690374
Similar articles
-
Biallelic mutations in Tenascin-X cause classical-like Ehlers-Danlos syndrome with slowly progressive muscular weakness.Neuromuscul Disord. 2020 Oct;30(10):833-838. doi: 10.1016/j.nmd.2020.09.002. Epub 2020 Sep 7. Neuromuscul Disord. 2020. PMID: 32988710
-
A recessive form of the Ehlers-Danlos syndrome caused by tenascin-X deficiency.N Engl J Med. 2001 Oct 18;345(16):1167-75. doi: 10.1056/NEJMoa002939. N Engl J Med. 2001. PMID: 11642233
-
Tenascin-X deficiency mimics Ehlers-Danlos syndrome in mice through alteration of collagen deposition.Nat Genet. 2002 Apr;30(4):421-5. doi: 10.1038/ng850. Epub 2002 Mar 4. Nat Genet. 2002. PMID: 11925569
-
Tenascin-X deficiency and Ehlers-Danlos syndrome: a case report and review of the literature.Br J Dermatol. 2010 Dec;163(6):1340-5. doi: 10.1111/j.1365-2133.2010.09949.x. Br J Dermatol. 2010. PMID: 20649799 Review.
-
Tenascin-X, collagen, elastin, and the Ehlers-Danlos syndrome.Am J Med Genet C Semin Med Genet. 2005 Nov 15;139C(1):24-30. doi: 10.1002/ajmg.c.30071. Am J Med Genet C Semin Med Genet. 2005. PMID: 16278880 Review.
Cited by
-
Congenital muscular dystrophies: a brief review.Semin Pediatr Neurol. 2011 Dec;18(4):277-88. doi: 10.1016/j.spen.2011.10.010. Semin Pediatr Neurol. 2011. PMID: 22172424 Free PMC article. Review.
-
Diagnostic approach to the congenital muscular dystrophies.Neuromuscul Disord. 2014 Apr;24(4):289-311. doi: 10.1016/j.nmd.2013.12.011. Epub 2014 Jan 9. Neuromuscul Disord. 2014. PMID: 24581957 Free PMC article.
-
Defective initiation of glycosaminoglycan synthesis due to B3GALT6 mutations causes a pleiotropic Ehlers-Danlos-syndrome-like connective tissue disorder.Am J Hum Genet. 2013 Jun 6;92(6):935-45. doi: 10.1016/j.ajhg.2013.04.016. Epub 2013 May 9. Am J Hum Genet. 2013. PMID: 23664118 Free PMC article.
-
Tenascin-X haploinsufficiency associated with Ehlers-Danlos syndrome in patients with congenital adrenal hyperplasia.J Clin Endocrinol Metab. 2013 Feb;98(2):E379-87. doi: 10.1210/jc.2012-3148. Epub 2013 Jan 2. J Clin Endocrinol Metab. 2013. PMID: 23284009 Free PMC article.
-
Transcriptome profiling identifies regulators of pathogenesis in collagen VI related muscular dystrophy.PLoS One. 2017 Dec 15;12(12):e0189664. doi: 10.1371/journal.pone.0189664. eCollection 2017. PLoS One. 2017. PMID: 29244830 Free PMC article.
Publication types
MeSH terms
Substances
LinkOut - more resources
Full Text Sources
Medical
Molecular Biology Databases
