Alpha-sarcoglycanopathy presenting as myalgia and hyperCKemia in two adults with a long-term follow-up. Case reports

Research output: Contribution to journalArticlepeer-review

Abstract

Two patients with a paucisymptomatic hyperckemia underwent a skeletal muscle biopsy and massive gene panel to investigate mutations associated with inherited muscle disorders. In the SGCA gene, sequence analyses revealed a homozygous c.850C > T/p.Arg284Cys in patient 1 and two heterozygous variants (c.739G > A/p.Val247Met and c.850C > T/p.Arg284Cys) in patient 2. Combination of histology and immunofluorence studies showed minimal changes for muscular proteins including the α-sarcoglycan. These two cases highlight the advantages of next-generation sequencing in the differential diagnosis of mild myopathic conditions before considering the more invasive muscle biopsy in sarcoglycanopathies.

Original languageEnglish
Pages (from-to)218-221
Number of pages4
JournalActa myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology
Volume39
Issue number4
DOIs
Publication statusPublished - Dec 1 2020

Keywords

  • hyperCKemia
  • muscle biopsy
  • Next Generation Sequencing
  • SGCA

ASJC Scopus subject areas

  • Cardiology and Cardiovascular Medicine

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