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  1. Jul 2022
  2. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Identification of a novel SGCA missense mutation in a case of limb‐girdle muscular dystrophy 2D with the absence of four sarcoglycan proteins
    1
    1. jchang 13 Jul 2022
      mutations in the α-sarcoglycan gene (SGCA)

      PMID: 30989758

      Gene: SGCA

      HGNCID: 10805

      Case: 8 year old boy, Chinese.

      DiseaseAssertion: LGMD

      FamilyInfo: Family members denied relevant family history

      CasePresentingHPOs: HP:0006785, HP:0003551, HP:0003391, HP:0003560

      MotorAchievement: Noticed around 7 years old that he had trouble climbing stairs and standing up when crouching and had slower activity than other peers.

      CreatineKinase: Creatine kinase CK 15550U/L, MB fraction 276 U/L

      CasePreviousTesting:430 genes associated with muscular dystrophy were captured with a liquid catch kit.

      GenotypingMethod: NGS

      PreviouslyPublished: NA

      SupplementalData: NA

      Variant: NM_000023c.218 C>T

      ClinVarID: Unregistered varient

      CAID: Unregistered varient

      gnomAD: https://gnomad.broadinstitute.org/variant/17-48245003-C-T?dataset=gnomad_r2_1

      "0.000 Allele Frequency - East Asian

      General Gene: SGCA HGNC:10805 CaseInfo
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    ncbi.nlm.nih.gov/pmc/articles/PMC6850699/