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Bi-allelic variants in HMGCR cause an autosomal-recessive progressive limb-girdle muscular dystrophy.
Morales-Rosado, Joel A; Schwab, Tanya L; Macklin-Mantia, Sarah K; Foley, A Reghan; Pinto E Vairo, Filippo; Pehlivan, Davut; Donkervoort, Sandra; Rosenfeld, Jill A; Boyum, Grace E; Hu, Ying; Cong, Anh T Q; Lotze, Timothy E; Mohila, Carrie A; Saade, Dimah; Bharucha-Goebel, Diana; Chao, Katherine R; Grunseich, Christopher; Bruels, Christine C; Littel, Hannah R; Estrella, Elicia A; Pais, Lynn; Kang, Peter B; Zimmermann, Michael T; Lupski, James R; Lee, Brendan; Schellenberg, Matthew J; Clark, Karl J; Wierenga, Klaas J; Bönnemann, Carsten G; Klee, Eric W.
Affiliation
  • Morales-Rosado JA; Center for Individualized Medicine, Mayo Clinic, Rochester, MN, USA; Department of Quantitative Health Sciences, Division of Computational Biology, Mayo Clinic, Rochester, MN, USA.
  • Schwab TL; Center for Individualized Medicine, Mayo Clinic, Rochester, MN, USA; Department of Biochemistry and Molecular Biology, Mayo Clinic, Rochester, MM, USA.
  • Macklin-Mantia SK; Center for Individualized Medicine, Mayo Clinic, Rochester, MN, USA; Department of Clinical Genomics at Mayo Clinic, Jacksonville, FL, USA.
  • Foley AR; Neuromuscular and Neurogenetic Disorders of Childhood Section, Neurogenetics Branch, National Institute of Neurological Disorders and Stroke, NIH, Bethesda, MD, USA.
  • Pinto E Vairo F; Center for Individualized Medicine, Mayo Clinic, Rochester, MN, USA; Department of Clinical Genomics, Mayo Clinic, Rochester, MN, USA.
  • Pehlivan D; Department of Molecular and Human Genetics, Baylor College of Medicine and Texas Children's Hospital, Houston, TX, USA; Division of Neurology and Developmental Neuroscience and Department of Pediatrics, Baylor College of Medicine, Houston, TX, USA.
  • Donkervoort S; Neuromuscular and Neurogenetic Disorders of Childhood Section, Neurogenetics Branch, National Institute of Neurological Disorders and Stroke, NIH, Bethesda, MD, USA.
  • Rosenfeld JA; Department of Molecular and Human Genetics, Baylor College of Medicine and Texas Children's Hospital, Houston, TX, USA; Baylor Genetics Laboratories, Houston, TX, USA.
  • Boyum GE; Department of Biochemistry and Molecular Biology, Mayo Clinic, Rochester, MM, USA.
  • Hu Y; Neuromuscular and Neurogenetic Disorders of Childhood Section, Neurogenetics Branch, National Institute of Neurological Disorders and Stroke, NIH, Bethesda, MD, USA.
  • Cong ATQ; Department of Biochemistry and Molecular Biology, Mayo Clinic, Rochester, MM, USA.
  • Lotze TE; Division of Neurology and Developmental Neuroscience and Department of Pediatrics, Baylor College of Medicine, Houston, TX, USA.
  • Mohila CA; Department of Pathology & Immunology, Baylor College of Medicine and Texas Children's Hospital, Houston, TX, USA.
  • Saade D; Neuromuscular and Neurogenetic Disorders of Childhood Section, Neurogenetics Branch, National Institute of Neurological Disorders and Stroke, NIH, Bethesda, MD, USA.
  • Bharucha-Goebel D; Neuromuscular and Neurogenetic Disorders of Childhood Section, Neurogenetics Branch, National Institute of Neurological Disorders and Stroke, NIH, Bethesda, MD, USA; Division of Neurology, Children's National Hospital, Washington, DC, USA.
  • Chao KR; Program in Medical and Population Genetics, Center for Mendelian Genomics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
  • Grunseich C; Neuromuscular and Neurogenetic Disorders of Childhood Section, Neurogenetics Branch, National Institute of Neurological Disorders and Stroke, NIH, Bethesda, MD, USA.
  • Bruels CC; Paul and Sheila Wellstone Muscular Dystrophy Center and Department of Neurology, University of Minnesota Medical School, Minneapolis, MN, USA.
  • Littel HR; Paul and Sheila Wellstone Muscular Dystrophy Center and Department of Neurology, University of Minnesota Medical School, Minneapolis, MN, USA.
  • Estrella EA; Division of Genetics and Genomics, Boston Children's Hospital and Harvard Medical School, Boston, MA, USA.
  • Pais L; Program in Medical and Population Genetics, Center for Mendelian Genomics, Broad Institute of MIT and Harvard, Cambridge, MA, USA; Paul and Sheila Wellstone Muscular Dystrophy Center and Department of Neurology, University of Minnesota Medical School, Minneapolis, MN, USA; Analytic and Translational
  • Kang PB; Paul and Sheila Wellstone Muscular Dystrophy Center and Department of Neurology, University of Minnesota Medical School, Minneapolis, MN, USA; Institute for Translational Neuroscience, University of Minnesota, Minneapolis, MN, USA.
  • Zimmermann MT; Bioinformatics Research and Development Laboratory, Genomics Sciences and Precision Medicine Center, Clinical and Translational Sciences Institute, Medical College of Wisconsin, Milwaukee, WI, USA.
  • Lupski JR; Department of Molecular and Human Genetics, Baylor College of Medicine and Texas Children's Hospital, Houston, TX, USA.
  • Lee B; Department of Molecular and Human Genetics, Baylor College of Medicine and Texas Children's Hospital, Houston, TX, USA.
  • Schellenberg MJ; Department of Biochemistry and Molecular Biology, Mayo Clinic, Rochester, MM, USA.
  • Clark KJ; Department of Biochemistry and Molecular Biology, Mayo Clinic, Rochester, MM, USA.
  • Wierenga KJ; Department of Clinical Genomics at Mayo Clinic, Jacksonville, FL, USA.
  • Bönnemann CG; Neuromuscular and Neurogenetic Disorders of Childhood Section, Neurogenetics Branch, National Institute of Neurological Disorders and Stroke, NIH, Bethesda, MD, USA.
  • Klee EW; Center for Individualized Medicine, Mayo Clinic, Rochester, MN, USA; Department of Quantitative Health Sciences, Division of Computational Biology, Mayo Clinic, Rochester, MN, USA; Department of Clinical Genomics, Mayo Clinic, Rochester, MN, USA. Electronic address: klee.eric@mayo.edu.
Am J Hum Genet ; 110(6): 989-997, 2023 06 01.
Article in En | MEDLINE | ID: mdl-37167966
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Hydroxymethylglutaryl-CoA Reductase Inhibitors / Muscular Dystrophies, Limb-Girdle / Muscular Diseases / Muscular Dystrophies Type of study: Diagnostic_studies / Prognostic_studies Limits: Humans Language: En Journal: Am J Hum Genet Year: 2023 Type: Article Affiliation country: United States
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Hydroxymethylglutaryl-CoA Reductase Inhibitors / Muscular Dystrophies, Limb-Girdle / Muscular Diseases / Muscular Dystrophies Type of study: Diagnostic_studies / Prognostic_studies Limits: Humans Language: En Journal: Am J Hum Genet Year: 2023 Type: Article Affiliation country: United States