Myopathy in a 20-year-old female patient with D4ST-1 deficient Ehlers-Danlos syndrome due to a homozygous CHST14 mutation.

التفاصيل البيبلوغرافية
العنوان:	Myopathy in a 20-year-old female patient with D4ST-1 deficient Ehlers-Danlos syndrome due to a homozygous CHST14 mutation.
المؤلفون:	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.
المصدر:	American Journal of Medical Genetics. Part A, 158A, 4, pp. 850-5
سنة النشر:	2012
المجموعة:	Radboud University: DSpace
مصطلحات موضوعية:	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
الوصف:	Item does not contain fulltext ; 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. ; 01 april 2012
نوع الوثيقة:	article in journal/newspaper
اللغة:	unknown
Relation:	http://hdl.handle.net/2066/108793
DOI:	10.1002/ajmg.a.35232
الاتاحة:	http://hdl.handle.net/2066/108793 https://doi.org/10.1002/ajmg.a.35232
رقم الانضمام:	edsbas.A667A5F5
قاعدة البيانات:	BASE

الوصف
DOI:	10.1002/ajmg.a.35232