Myopathy in a 20-year-old female patient with D4ST-1 deficient Ehlers-Danlos syndrome due to a homozygous CHST14 mutation

Authors

  • N.C. Voermans,

    Corresponding author
    1. Department of Neurology, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands
    • Department of Neurology, 935, Donders Institute for Brain, Cognition and Behavior, Radboud University Nijmegen Medical Centre, P.O. Box 9101, 6500 HB Nijmegen, The Netherlands.
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  • M. Kempers,

    1. Department of Human Genetics, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands
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  • M. Lammens,

    1. Department of Neurology, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands
    2. Department of Pathology, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands
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  • N. van Alfen,

    1. Department of Neurology, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands
    2. Department of Clinical Neurophysiology, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands
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  • M.C. Janssen,

    1. Department of Internal Medicine, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands
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  • C. Bönnemann,

    1. Neuromuscular and Neurogenetic Disorders of Childhood Section, Neurogenetics Branch, National Institute of Neurological Disorders and Stroke/NIH, Bethesda, Maryland
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  • B.G. van Engelen,

    1. Department of Neurology, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands
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  • B.C. Hamel

    1. Department of Human Genetics, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands
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Errata

This article is corrected by:

  1. Errata: 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” Volume 161, Issue 2, 403, Article first published online: 24 January 2013

  • How to Cite this Article: Voermans NC, Kempers M, Lammens M, van Alfen N, Janssen MC, Bönnemann C, van Engelen BG, Hamel BC. 2012. 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 Part A 158A:850–855.

Abstract

We here report on a 20-year-old female patient with EDS due to a homozygous CHST14 single nucleotide deletion resulting in D4ST-1 deficiency, accompanied by muscle hypoplasia and muscle weakness. Findings of muscle ultrasound, electromyography, and muscle biopsy pointed to a myopathy, similarly as in other EDS types. This myopathy probably contributes to the gross motor developmental delay in this type of EDS. © 2012 Wiley Periodicals, Inc.

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