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. ©2020 Gaetano Conte Academy - Mediterranean Society of Myology, Naples, Italy.

Dosi, C., Rubegni, A., Cassandrini, D., Malandrini, A., Maggi, L., Donati, M.A., et al. (2020). Alpha-sarcoglycanopathy presenting as myalgia and hyperCKemia in two adults with a long-term follow-up. Case reports. ACTA MYOLOGICA, 39(4), 218-221 [10.36185/2532-1900-025].

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

Malandrini A.;
2020-01-01

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. ©2020 Gaetano Conte Academy - Mediterranean Society of Myology, Naples, Italy.
Dosi, C., Rubegni, A., Cassandrini, D., Malandrini, A., Maggi, L., Donati, M.A., et al. (2020). Alpha-sarcoglycanopathy presenting as myalgia and hyperCKemia in two adults with a long-term follow-up. Case reports. ACTA MYOLOGICA, 39(4), 218-221 [10.36185/2532-1900-025].
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/11365/1128537