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5. Limb girdle muscular dystrophy D3 HNRNPDL related in a Chinese family with distal muscle weakness caused by a mutation in the prion-like domain. Sun Y; Chen H; Lu Y; Duo J; Lei L; OuYang Y; Hao Y; Da Y; Shen XM J Neurol; 2019 Feb; 266(2):498-506. PubMed ID: 30604053 [TBL] [Abstract][Full Text] [Related]
7. Clinical and genetic characterization of limb girdle muscular dystrophy R7 telethonin-related patients from three unrelated Chinese families. Chen H; Xu G; Lin F; Jin M; Cai N; Qiu L; Ye Z; Wang L; Lin M; Wang N Neuromuscul Disord; 2020 Feb; 30(2):137-143. PubMed ID: 32005491 [TBL] [Abstract][Full Text] [Related]
8. Whole-exome sequencing identifies novel pathogenic mutations and putative phenotype-influencing variants in Polish limb-girdle muscular dystrophy patients. Fichna JP; Macias A; Piechota M; Korostyński M; Potulska-Chromik A; Redowicz MJ; Zekanowski C Hum Genomics; 2018 Jul; 12(1):34. PubMed ID: 29970176 [TBL] [Abstract][Full Text] [Related]
9. A defect in the RNA-processing protein HNRPDL causes limb-girdle muscular dystrophy 1G (LGMD1G). Vieira NM; Naslavsky MS; Licinio L; Kok F; Schlesinger D; Vainzof M; Sanchez N; Kitajima JP; Gal L; Cavaçana N; Serafini PR; Chuartzman S; Vasquez C; Mimbacas A; Nigro V; Pavanello RC; Schuldiner M; Kunkel LM; Zatz M Hum Mol Genet; 2014 Aug; 23(15):4103-10. PubMed ID: 24647604 [TBL] [Abstract][Full Text] [Related]
10. A novel mutation in the myotilin gene (MYOT) causes a severe form of limb girdle muscular dystrophy 1A (LGMD1A). Reilich P; Krause S; Schramm N; Klutzny U; Bulst S; Zehetmayer B; Schneiderat P; Walter MC; Schoser B; Lochmüller H J Neurol; 2011 Aug; 258(8):1437-44. PubMed ID: 21336781 [TBL] [Abstract][Full Text] [Related]
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14. Myotilinopathy: refining the clinical and myopathological phenotype. Olivé M; Goldfarb LG; Shatunov A; Fischer D; Ferrer I Brain; 2005 Oct; 128(Pt 10):2315-26. PubMed ID: 15947064 [TBL] [Abstract][Full Text] [Related]
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17. Clinical and molecular characterization of patients with limb-girdle muscular dystrophy type 2I. Boito CA; Melacini P; Vianello A; Prandini P; Gavassini BF; Bagattin A; Siciliano G; Angelini C; Pegoraro E Arch Neurol; 2005 Dec; 62(12):1894-9. PubMed ID: 16344347 [TBL] [Abstract][Full Text] [Related]
18. Clinical and Molecular Spectrum Associated with COL6A3 c.7447A>G p.(Lys2483Glu) Variant: Elucidating its Role in Collagen VI-related Myopathies. Villar-Quiles RN; Donkervoort S; de Becdelièvre A; Gartioux C; Jobic V; Foley AR; McCarty RM; Hu Y; Menassa R; Michel L; Gousse G; Lacour A; Petiot P; Streichenberger N; Choumert A; Declerck L; Urtizberea JA; Sole G; Furby A; Cérino M; Krahn M; Campana-Salort E; Ferreiro A; Eymard B; Bönnemann CG; Bharucha-Goebel D; Sumner CJ; Connolly AM; Richard P; Allamand V; Métay C; Stojkovic T J Neuromuscul Dis; 2021; 8(4):633-645. PubMed ID: 33749658 [TBL] [Abstract][Full Text] [Related]
19. Intrafamilial variability of limb-girdle muscular dystrophy, LGMD1D type. Zima J; Eaton A; Pál E; Till Á; Ito YA; Warman-Chardon J; Hartley T; Cagnone G; Melegh BI; ; Boycott KM; Melegh B; Hadzsiev K Eur J Med Genet; 2020 Feb; 63(2):103655. PubMed ID: 31034989 [TBL] [Abstract][Full Text] [Related]
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