11 research outputs found

    Bethlem myopathy: long-term follow-up identifies COL6 mutations predicting severe clinical evolution.

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    Mutations in one of the 3 genes encoding collagen VI (COLVI) are responsible for a group of heterogeneous phenotypes of which Bethlem myopathy (BM) represents the milder end of the spectrum. Genotype-phenotype correlations and long-term follow-up description in BM remain scarce.info:eu-repo/semantics/publishe
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