Myopathy in a 20-Year-Old Female Patient With D4ST-1 Deficient Ehlers-Danlos Syndrome Due to a Homozygous CHST14 Mutation

摘要

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.