Teaching NeuroImages: characteristic phenotype of Ullrich congenital muscular dystrophy.
case_report · Level V
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- Record sourced from PubMed, PMID 23940025.
- Also identified by DOI 10.1212/WNL.0b013e3182a08d13 and PMC identifier 3775691.
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Abstract
A 21-year-old woman presented with clinically classic signs of Ullrich congenital muscular dystrophy<sup>1</sup> (figure). Genetic testing of collagen VI genes revealed a homozygous mutation c.2329T>C, p.Cys777Arg in the <i>COL6A2</i> gene, consistent with the clinical diagnosis.
Medical subject headings
- Collagen Type VI
- Muscular Dystrophies
- Sclerosis