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A novel missense HNRNPA1 variant in the PY-NLS domain in a patient with late-onset distal myopathy.
Chompoopong, Pitcha; Milone, Margherita; Niu, Zhiyv; Cui, Gaofeng; Mer, Georges; Liewluck, Teerin.
Affiliation
  • Chompoopong P; Department of Neurology, Mayo Clinic, 200 First Street SW, Rochester, MN 55905, USA.
  • Milone M; Department of Neurology, Mayo Clinic, 200 First Street SW, Rochester, MN 55905, USA.
  • Niu Z; Department of Laboratory Medicine and Pathology, Mayo Clinic, 200 First Street SW, Rochester, MN 55905, USA; Department of Clinical Genomics, Mayo Clinic, 200 First Street SW, Rochester, MN 55905, USA.
  • Cui G; Department of Biochemistry and Molecular Biology, Mayo Clinic, 200 First Street SW, Rochester, MN 55905, USA.
  • Mer G; Department of Biochemistry and Molecular Biology, Mayo Clinic, 200 First Street SW, Rochester, MN 55905, USA.
  • Liewluck T; Department of Neurology, Mayo Clinic, 200 First Street SW, Rochester, MN 55905, USA. Electronic address: liewluck.teerin@mayo.edu.
Neuromuscul Disord ; 32(6): 521-526, 2022 06.
Article in En | MEDLINE | ID: mdl-35550112
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Osteitis Deformans / Distal Myopathies / Muscular Diseases Type of study: Prognostic_studies Limits: Humans / Male / Middle aged Language: En Journal: Neuromuscul Disord Journal subject: NEUROLOGIA Year: 2022 Document type: Article Affiliation country: United States Country of publication: United kingdom
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Osteitis Deformans / Distal Myopathies / Muscular Diseases Type of study: Prognostic_studies Limits: Humans / Male / Middle aged Language: En Journal: Neuromuscul Disord Journal subject: NEUROLOGIA Year: 2022 Document type: Article Affiliation country: United States Country of publication: United kingdom