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.
|Number of pages||4|
|Journal||Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology|
|Publication status||Published - Dec 1 2020|
- muscle biopsy
- Next Generation Sequencing
ASJC Scopus subject areas
- Cardiology and Cardiovascular Medicine