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

Claudia Dosi 1, Anna Rubegni1 1 Denise Cassandrini 1, Alessandro Malandrini 2, Lorenzo Maggi 3, M. Alice Donati 4, Filippo M. Santorelli 1

1 IRCCS Fondazione Stella Maris, Pisa, Italy; 2 Department of Medicine, Surgery and Neurosciences, University of Siena, Italy; 3 Fondazione IRCCS Istituto Neurologico “Carlo Besta”, Milan, Italy; 4 Metabolic Disease Unit, AOU Meyer Children Hospital, Florence, Italy

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.

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