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Autosomal-Dominant Distal Myopathy Associated with a Recurrent Missense Mutation in the Gene Encoding the Nuclear Matrix Protein, Matrin 3

Rare DiseasesRecurrent Missense MutationMendelian DisorderGenetic DisorderGeneticsPathologyMolecular GeneticsDisease Gene IdentificationNuclear Matrix ProteinMedicineMatrin 3Connective Tissue Disease