A novel de novo mutation in the triple helix of the COL6A3 gene in a two-generation Italian family affected by Bethlem myopathy. A diagnostic approach in the mutations' screening of type VI collagen

G. Pepe, E. Bertini, B. Giusti, T. Brunelli, P. Comeglio, B. Saitta, L. Merlini, M. L. Chu, G. Federici, R. Abbate

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Medicine & Life Sciences