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Cardiomyopathy and Sudden Cardiac Death as a Rare Presentation of Mucolipidosis Type III in a Family With Compound Heterozygous Variants in GNPTAB.

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Title: Cardiomyopathy and Sudden Cardiac Death as a Rare Presentation of Mucolipidosis Type III in a Family With Compound Heterozygous Variants in GNPTAB.
Authors: Stewart N; Garvan Institute of Medical Research, University of New South Wales, Sydney, Australia (N.S., N.H., C.C.S.-D., A. Butters, A. Baker, L.C., I.S., L.Y., L.K., I.W.D., E.R., A.Z., J.I.)., Henden N; Garvan Institute of Medical Research, University of New South Wales, Sydney, Australia (N.S., N.H., C.C.S.-D., A. Butters, A. Baker, L.C., I.S., L.Y., L.K., I.W.D., E.R., A.Z., J.I.)., Smith-Díaz CC; Garvan Institute of Medical Research, University of New South Wales, Sydney, Australia (N.S., N.H., C.C.S.-D., A. Butters, A. Baker, L.C., I.S., L.Y., L.K., I.W.D., E.R., A.Z., J.I.)., Rigby J; ACT Genetic Service, Canberra, Australia (J.R., M.-L.F.)., Butters A; Garvan Institute of Medical Research, University of New South Wales, Sydney, Australia (N.S., N.H., C.C.S.-D., A. Butters, A. Baker, L.C., I.S., L.Y., L.K., I.W.D., E.R., A.Z., J.I.)., Baker A; Garvan Institute of Medical Research, University of New South Wales, Sydney, Australia (N.S., N.H., C.C.S.-D., A. Butters, A. Baker, L.C., I.S., L.Y., L.K., I.W.D., E.R., A.Z., J.I.)., Catto L; Garvan Institute of Medical Research, University of New South Wales, Sydney, Australia (N.S., N.H., C.C.S.-D., A. Butters, A. Baker, L.C., I.S., L.Y., L.K., I.W.D., E.R., A.Z., J.I.)., Subasinghe I; Garvan Institute of Medical Research, University of New South Wales, Sydney, Australia (N.S., N.H., C.C.S.-D., A. Butters, A. Baker, L.C., I.S., L.Y., L.K., I.W.D., E.R., A.Z., J.I.)., Yeates L; Garvan Institute of Medical Research, University of New South Wales, Sydney, Australia (N.S., N.H., C.C.S.-D., A. Butters, A. Baker, L.C., I.S., L.Y., L.K., I.W.D., E.R., A.Z., J.I.)., Geraghty L; Royal Prince Alfred Hospital, Camperdown, New South Wales, Australia (L.G., J.F., B.G.)., Follett J; Royal Prince Alfred Hospital, Camperdown, New South Wales, Australia (L.G., J.F., B.G.).; Sydney Medical School, The University of Sydney, Camperdown, Australia (J.F., B.G., J.D.)., Sillence D; Discipline of Genomic Medicine, Sydney Medical School, The University of Sydney, Camperdown, Australia (D.S., A.Z.).; Department of Genetic Medicine, Westmead Hospital, New South Wales, Australia (D.S.)., Kemp L; Garvan Institute of Medical Research, University of New South Wales, Sydney, Australia (N.S., N.H., C.C.S.-D., A. Butters, A. Baker, L.C., I.S., L.Y., L.K., I.W.D., E.R., A.Z., J.I.)., Deveson IW; Garvan Institute of Medical Research, University of New South Wales, Sydney, Australia (N.S., N.H., C.C.S.-D., A. Butters, A. Baker, L.C., I.S., L.Y., L.K., I.W.D., E.R., A.Z., J.I.).; School of Clinical Medicine, Faculty of Medicine and Health, University of New South Wales, Sydney, Australia. (I.W.D., J.I.)., Alasady M; Rhythm & Cardiac Specialists, Bruce, ACT, Australia (M.A., S.W.)., Wilson S; Rhythm & Cardiac Specialists, Bruce, ACT, Australia (M.A., S.W.)., Simons C; Centre for Population Genomics, Garvan Institute of Medical Research, University of New South Wales, Sydney, Australia. (C.S., D.G.M.).; Centre for Population Genomics, Murdoch Children's Research Institute, Melbourne, Victoria, Australia (C.S., D.G.M.)., MacArthur DG; Centre for Population Genomics, Garvan Institute of Medical Research, University of New South Wales, Sydney, Australia. (C.S., D.G.M.).; Faculty of Medicine and Health, University of New South Wales, Sydney, Australia. (D.G.M.).; Centre for Population Genomics, Murdoch Children's Research Institute, Melbourne, Victoria, Australia (C.S., D.G.M.)., Gray B; Royal Prince Alfred Hospital, Camperdown, New South Wales, Australia (L.G., J.F., B.G.).; Sydney Medical School, The University of Sydney, Camperdown, Australia (J.F., B.G., J.D.)., Duflou J; Sydney Medical School, The University of Sydney, Camperdown, Australia (J.F., B.G., J.D.)., Freckmann ML; ACT Genetic Service, Canberra, Australia (J.R., M.-L.F.).; Northern Sydney Local Health District, St Leonards, New South Wales, Australia (M.-L.F.)., Richardson E; Garvan Institute of Medical Research, University of New South Wales, Sydney, Australia (N.S., N.H., C.C.S.-D., A. Butters, A. Baker, L.C., I.S., L.Y., L.K., I.W.D., E.R., A.Z., J.I.)., Zankl A; Garvan Institute of Medical Research, University of New South Wales, Sydney, Australia (N.S., N.H., C.C.S.-D., A. Butters, A. Baker, L.C., I.S., L.Y., L.K., I.W.D., E.R., A.Z., J.I.).; Discipline of Genomic Medicine, Sydney Medical School, The University of Sydney, Camperdown, Australia (D.S., A.Z.).; Department of Clinical Genetics, The Children's Hospital at Westmead, New South Wales, Australia (A.Z.)., Ingles J; Garvan Institute of Medical Research, University of New South Wales, Sydney, Australia (N.S., N.H., C.C.S.-D., A. Butters, A. Baker, L.C., I.S., L.Y., L.K., I.W.D., E.R., A.Z., J.I.).; School of Clinical Medicine, Faculty of Medicine and Health, University of New South Wales, Sydney, Australia. (I.W.D., J.I.).
Source: Circulation. Genomic and precision medicine [Circ Genom Precis Med] 2026 Jun 02, pp. e005703. Date of Electronic Publication: 2026 Jun 02.
Publication Type: Letter
Journal Info: Publisher: Lippincott Williams & Wilkins Country of Publication: United States NLM ID: 101714113 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 2574-8300 (Electronic) Linking ISSN: 25748300 NLM ISO Abbreviation: Circ Genom Precis Med Subsets: MEDLINE
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