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 language | English |
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Pages (from-to) | 218-221 |
Number of pages | 4 |
Journal | Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology |
Volume | 39 |
Issue number | 4 |
DOIs | |
Publication status | Published - Dec 1 2020 |
Keywords
- hyperCKemia
- muscle biopsy
- Next Generation Sequencing
- SGCA
ASJC Scopus subject areas
- Cardiology and Cardiovascular Medicine