title: Myopathy in a 20-year-old female patient with D4ST-1 deficient Ehlers-Danlos syndrome due to a homozygous CHST14 mutation.
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.
authors.affiliation: Department of Neurology, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands. n.voermans@neuro.umcn.nl
authors.forename: N C
authors.initials: NC
authors.lastname: Voermans
authors.forename: M
authors.initials: M
authors.lastname: Kempers
authors.forename: M
authors.initials: M
authors.lastname: Lammens
authors.forename: N
authors.initials: N
authors.lastname: van Alfen
authors.forename: M C
authors.initials: MC
authors.lastname: Janssen
authors.forename: C
authors.initials: C
authors.lastname: Bönnemann
authors.forename: B G
authors.initials: BG
authors.lastname: van Engelen
authors.forename: B C
authors.initials: BC
authors.lastname: Hamel
mesh_terms: D004535:Ehlers-Danlos Syndrome / Q000235:genetics* / Q000473:pathology*; D005260:Female; D006801:Humans; D018908:Muscle Weakness / Q000235:genetics*; D020641:Polymorphism, Single Nucleotide; D017384:Sequence Deletion; D015238:Sulfotransferases / Q000172:deficiency / Q000235:genetics*; D055815:Young Adult
chemical_list: D015238:Sulfotransferases; C438013:dermatan-4-sulfotransferase-1