Corrigendum to: “Myopathy in a 20-Year-Old Female Patient With D4ST-1 Deficient Ehlers-Danlos Syndrome Due to a Homozygous CHST14 Mutation, Am J Med Genet A. 2012 Apr; 158A(4):850–855”

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Errata

This article corrects:

  1. Myopathy in a 20-year-old female patient with D4ST-1 deficient Ehlers-Danlos syndrome due to a homozygous CHST14 mutation Volume 158A, Issue 4, 850–855, Article first published online: 9 March 2012

  • How to Cite this Article: Voermans NC. 2012. Corrigendum to “Myopathy in a 20-Year-Old Female Patient With D4ST-1 Deficient Ehlers-Danlos Syndrome Due to a Homozygous CHST14 Mutation, Am J Med Genet A. 2012 Apr;158A(4):850–855”. Am J Med Genet Part A 161A:403–403.

There was an error in the mutation description of the patient reported in this report. The true mutation description in this patient with D4ST-1 Deficient Ehlers-Danlos syndrome is c.145delG, p.Val49* (and not c.124delG, p.Val48X). Unfortunately, the incorrect test results were sent to our center at the time of diagnosis. Dr. N. Miyake discovered this error when reviewing the patients with this type of EDS. I am grateful that she informed us about this, and that this can be corrected now.

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