American Journal of Medical Genetics Part A

Volume 158A, Issue 4 p. 850-855

Research Article

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

Correction(s) for this article

N.C. Voermans,

Corresponding Author

N.C. Voermans

[email protected]

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.Search for more papers by this author

M. Kempers,

M. Kempers

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

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M. Lammens,

M. Lammens

Department of Neurology, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands

Department of Pathology, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands

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N. van Alfen,

N. van Alfen

Department of Neurology, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands

Department of Clinical Neurophysiology, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands

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M.C. Janssen,

M.C. Janssen

Department of Internal Medicine, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands

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C. Bönnemann,

C. Bönnemann

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,

B.G. van Engelen

Department of Neurology, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands

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B.C. Hamel,

B.C. Hamel

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

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N.C. Voermans,

Corresponding Author

N.C. Voermans

[email protected]

Department of Neurology, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands

M. Kempers,

M. Kempers

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

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M. Lammens,

M. Lammens

Department of Neurology, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands

Department of Pathology, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands

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N. van Alfen,

N. van Alfen

Department of Neurology, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands

Department of Clinical Neurophysiology, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands

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M.C. Janssen,

M.C. Janssen

Department of Internal Medicine, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands

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C. Bönnemann,

C. Bönnemann

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,

B.G. van Engelen

Department of Neurology, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands

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B.C. Hamel,

B.C. Hamel

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

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First published: 09 March 2012

https://doi.org/10.1002/ajmg.a.35232

Citations: 33

^†

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.

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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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Citing Literature

Volume158A, Issue4

April 2012

Pages 850-855

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

Correction(s) for this article

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”

Abstract

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

Correction(s) for this article

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”

Abstract

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