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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Title:	Myopathy in a 20-year-old female patient with D4ST-1 deficient Ehlers-Danlos syndrome due to a homozygous CHST14 mutation.
Author(s):	Voermans, N.C. ; Kempers, M.; Lammens, M.M.Y. ; Alfen, N. van ; Janssen, M.C.H. ; Bonnemann, C.; Engelen, B.G.M. van ; Hamel, B.C.J.
Publication year:	2012
Source:	American Journal of Medical Genetics. Part A, vol. 158A, iss. 4, (2012), pp. 850-855
ISSN:	1552-4825
DOI:	https://doi.org/10.1002/ajmg.a.35232
Annotation:	1 april 2012
Publication type:	Article / Letter to editor
Please use this identifier to cite or link to this item : https://hdl.handle.net/2066/108793
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Subject:	DCN MP - Plasticity and memory DCN MP - Plasticity and memory IGMD 9: Renal disorder DCN MP - Plasticity and memory NCEBP 10: Human Movement & Fatigue IGMD 5: Health aging / healthy living NCEBP 14: Cardiovascular diseases
Organization:	Neurology Pathology Internal Medicine Human Genetics
Journal title:	American Journal of Medical Genetics. Part A
Volume:	vol. 158A
Issue:	iss. 4
Page start:	p. 850
Page end:	p. 855
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.