Subject:
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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:
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Neurology Pathology Internal Medicine Human Genetics |
Journal title:
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American Journal of Medical Genetics. Part A
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Abstract:
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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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