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P.382Recessive COL12A1 Loss of Function EDS/myopathy Overlap Syndrome: Confirmation and Expansion of a Consistently Severe Phenotype

S. Neuhaus,C. Konersman,D. Saade,S. Donkervoort, S. Ceulemans, P. Magoulas,A. Skalsky,J. Friedman, D. Malicki,M. Bainbridge, C. Shimul,S. Nahas,D. Dimmock,S. Kingsmore,J. Gleeson,T. Lotze,A. Foley,C. Bonnemann

NEUROMUSCULAR DISORDERS（2019）

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