Article
Myopathy in a 20-year-old female patient with D4ST-1 deficient Ehlers-Danlos syndrome due to a homozygous CHST14 mutation.
American journal of medical genetics. Part A - 1 Apr 2012
Voermans N C, Kempers M, Lammens M, van Alfen N, Janssen M C, Bönnemann C, van Engelen B G, Hamel B C
Abstract excerpt
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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