Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Pivot Concepts:
Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Target Concepts:
Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Query: UMLS:C1762617 (
weakness
)
37,932
document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)
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.
...
PMID:Myopathy in a 20-year-old female patient with D4ST-1 deficient Ehlers-Danlos syndrome due to a homozygous CHST14 mutation. 2240 44
