Myopathy in a 20‐year‐old female patient with D4ST‐1 deficient Ehlers‐Danlos syndrome due to a homozygous CHST14 mutation
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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.
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These findings were compatible with a myopathy, similar to other EDS types.
“These findings were compatible with a myopathy, similar to other EDS types [Voermans et al., 2012].”
From The Ehlers–Danlos syndromes, rare types (2017) · cites this paper as Voermans et al., 2012
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- Authors
- Voermans, N. C., Kempers, M., Lammens, M., van Alfen, N., Janssen, M. C., Bönnemann, C., van Engelen, B. G., & Hamel, B. C.
- Affiliations
- Radboud University Medical Center (NL)
- National Institutes of Health (US)
- Corresponding author
- Voermans, N.C.
- Venue
- American Journal of Medical Genetics Part A
- Publisher
- Wiley
- Published
- 2012-03-09
- Volume
- 158A
- Issue
- 4
- Pages
- 850-855
- ISSN
- 1552-4825 (ISSN-L)
- 1552-4833
- PMC
- PMC5210216
- OpenAlex
- W2082628894
- Cited by
- 36
- References
- 32
- Citations by year
- 2023: 1 · 2022: 4 · 2021: 5 · 2020: 2 · 2019: 1 · 2018: 3 · 2017: 5 · 2015: 4 · 2014: 3 · 2013: 7 · 2012: 1
- FWCI
- 2.89
- Type
- journal article
- Language
- en
- Open access
- green
- www.ncbi.nlm.nih.gov
- Locations
- American Journal of Medical Genetics Part A (publishedVersion)
- PubMed (publishedVersion)
- PubMed Central (acceptedVersion)
- Radboud Repository (Radboud University) (submittedVersion)
- Funders
- National Institutes of Health (Z99 NS999999)
- National Institute of Neurological Disorders and Stroke (ZIANS003129)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Connective tissue disorders research
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Muscle Physiology and Disorders
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Cell Biology › Proteoglycans and glycosaminoglycans research
- Keywords
- Ehlers-Danlos syndrome type IV, myopathy, muscle hypoplasia, muscle weakness, muscle ultrasound, electromyography, muscle biopsy
- MeSH terms
- Ehlers-Danlos Syndrome, Female, Humans, Sulfotransferases, Sequence Deletion, Muscle Weakness, Polymorphism, Single Nucleotide, Young Adult
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