Congenital muscular dystrophy type 1D (MDC1D) due to a large intragenic insertion/deletion, involving intron 10 of the LARGE gene
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K. Campbell | E. Chouery | A. Mégarbané | N. Clarke | P. Guicheney | S. Maugenre | T. Willer | T. Endo | R. Peat | S. Vuillaumier‐Barrot | H. Manya | J. Urtizberea | A. Vandebrouck | F. Gray | C. Bouchet | Rachel A. Peat