Journal
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
Volume 158A, Issue 4, Pages 850-855Publisher
WILEY-BLACKWELL
DOI: 10.1002/ajmg.a.35232
Keywords
Ehlers-Danlos syndrome; myopathy; neuromuscular features; muscle biopsy; delayed motor development; connective tissue; CHST14; musculocontractural Ehlers-Danlos syndrome; adducted thumb-clubfoot syndrome
Categories
Funding
- Prinses Beatrix Fonds
Ask authors/readers for more resources
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. (C) 2012 Wiley Periodicals, Inc.
Authors
I am an author on this paper
Click your name to claim this paper and add it to your profile.
Reviews
Recommended
No Data Available