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10. Co-occurrence of DMPK expansion and CLCN1 mutation in a patient with myotonia. Locci S; Cardani R; Brunori P; Lucchiari S; Comi GP; Federico A; De Stefano N; Meola G; Mignarri A Neurol Sci; 2021 Dec; 42(12):5365-5368. PubMed ID: 34386887 [TBL] [Abstract][Full Text] [Related]
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17. Myotonia congenita and myotonic dystrophy in the same family: coexistence of a CLCN1 mutation and expansion in the CNBP (ZNF9) gene. Sun C; Van Ghelue M; Tranebjærg L; Thyssen F; Nilssen Ø; Torbergsen T Clin Genet; 2011 Dec; 80(6):574-80. PubMed ID: 21204798 [TBL] [Abstract][Full Text] [Related]
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20. A family with an unusual myotonic and myopathic phenotype and no CTG expansion (proximal myotonic myopathy syndrome): a challenge for future molecular studies. Meola G; Sansone V; Radice S; Skradski S; Ptacek L Neuromuscul Disord; 1996 May; 6(3):143-50. PubMed ID: 8784800 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]