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A founder mutation in the GMPPB gene [c.1000G > A (p.Asp334Asn)] causes a mild form of limb-girdle muscular dystrophy/congenital myasthenic syndrome (LGMD/CMS) in South Indian patients.
Polavarapu, Kiran; Mathur, Aradhna; Joshi, Aditi; Nashi, Saraswati; Preethish-Kumar, Veeramani; Bardhan, Mainak; Sharma, Pooja; Parveen, Shaista; Seth, Malika; Vengalil, Seena; Chawla, Tanushree; Shingavi, Leena; Shamim, Uzma; Nayak, Sushmita; Vivekanand, A; Töpf, Ana; Roos, Andreas; Horvath, Rita; Lochmüller, Hanns; Nandeesh, Bevinahalli; Arunachal, Gautham; Nalini, Atchayaram; Faruq, Mohammed.
Affiliation
  • Polavarapu K; Department of Neurology, National Institute of Mental Health And Neurosciences (NIMHANS), Bengaluru, 560029, India.
  • Mathur A; Children's Hospital of Eastern Ontario Research Institute, Ottawa, K1H 5B2, Canada.
  • Joshi A; CSIR-Institute of Genomics and Integrative Biology, Mall Road, Delhi, 110025, India.
  • Nashi S; CSIR-Institute of Genomics and Integrative Biology, Mall Road, Delhi, 110025, India.
  • Preethish-Kumar V; Department of Neurology, National Institute of Mental Health And Neurosciences (NIMHANS), Bengaluru, 560029, India.
  • Bardhan M; Department of Neurology, National Institute of Mental Health And Neurosciences (NIMHANS), Bengaluru, 560029, India.
  • Sharma P; Department of Neurology, National Institute of Mental Health And Neurosciences (NIMHANS), Bengaluru, 560029, India.
  • Parveen S; CSIR-Institute of Genomics and Integrative Biology, Mall Road, Delhi, 110025, India.
  • Seth M; CSIR-Institute of Genomics and Integrative Biology, Mall Road, Delhi, 110025, India.
  • Vengalil S; CSIR-Institute of Genomics and Integrative Biology, Mall Road, Delhi, 110025, India.
  • Chawla T; Department of Neurology, National Institute of Mental Health And Neurosciences (NIMHANS), Bengaluru, 560029, India.
  • Shingavi L; Department of Neurology, National Institute of Mental Health And Neurosciences (NIMHANS), Bengaluru, 560029, India.
  • Shamim U; Department of Neurology, National Institute of Mental Health And Neurosciences (NIMHANS), Bengaluru, 560029, India.
  • Nayak S; CSIR-Institute of Genomics and Integrative Biology, Mall Road, Delhi, 110025, India.
  • Vivekanand A; CSIR-Institute of Genomics and Integrative Biology, Mall Road, Delhi, 110025, India.
  • Töpf A; CSIR-Institute of Genomics and Integrative Biology, Mall Road, Delhi, 110025, India.
  • Roos A; Institute of Genetic Medicine, Newcastle University, New castle Upon Tyne, NE1 3BZ, UK.
  • Horvath R; Department of Neuropediatrics, University Hospital Essen, 45147, Essen, Germany.
  • Lochmüller H; Department of Clinical Neurosciences, University of Cambridge, Cambridge, CB2 1TN, UK.
  • Nandeesh B; Children's Hospital of Eastern Ontario Research Institute, Ottawa, K1H 5B2, Canada.
  • Arunachal G; Division of Neurology, Department of Medicine, The Ottawa Hospital, Ottawa, K1H 8L6, Canada.
  • Nalini A; Brain and Mind Research Institute, University of Ottawa, Ottawa, K1H 8M5, Canada.
  • Faruq M; Department of Neuropathology, National Institute of Mental Health And Neurosciences (NIMHANS), Bengaluru, 560029, India.
Neurogenetics ; 22(4): 271-285, 2021 10.
Article in En | MEDLINE | ID: mdl-34333724
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Myasthenic Syndromes, Congenital / Muscular Dystrophies, Limb-Girdle / Nucleotidyltransferases Type of study: Etiology_studies / Prognostic_studies Limits: Adult / Child / Female / Humans / Male / Middle aged Language: En Journal: Neurogenetics Journal subject: GENETICA / NEUROLOGIA Year: 2021 Document type: Article Affiliation country: India Country of publication: United States
Fulltext
Add to My VHL
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Myasthenic Syndromes, Congenital / Muscular Dystrophies, Limb-Girdle / Nucleotidyltransferases Type of study: Etiology_studies / Prognostic_studies Limits: Adult / Child / Female / Humans / Male / Middle aged Language: En Journal: Neurogenetics Journal subject: GENETICA / NEUROLOGIA Year: 2021 Document type: Article Affiliation country: India Country of publication: United States