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

Claudia Dosi; Anna Rubegni; Denise Cassandrini; Alessandro Malandrini; Lorenzo Maggi; M. Alice Donati; Filippo M. Santorelli

doi:10.36185/2532-1900-025

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

Claudia Dosi, Anna Rubegni, Denise Cassandrini, Alessandro Malandrini, Lorenzo Maggi, M. Alice Donati, Filippo M. Santorelli

Research output: Contribution to journal › Article › peer-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 language	English
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	https://doi.org/10.36185/2532-1900-025
Publication status	Published - Dec 1 2020

Keywords

hyperCKemia
muscle biopsy
Next Generation Sequencing
SGCA

ASJC Scopus subject areas

Cardiology and Cardiovascular Medicine

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10.36185/2532-1900-025

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Dosi, C., Rubegni, A., Cassandrini, D., Malandrini, A., Maggi, L., Donati, M. A., & Santorelli, F. M. (2020). Alpha-sarcoglycanopathy presenting as myalgia and hyperCKemia in two adults with a long-term follow-up. Case reports. Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology, 39(4), 218-221. https://doi.org/10.36185/2532-1900-025

Alpha-sarcoglycanopathy presenting as myalgia and hyperCKemia in two adults with a long-term follow-up. Case reports. / Dosi, Claudia ; Rubegni, Anna ; Cassandrini, Denise; Malandrini, Alessandro; Maggi, Lorenzo ; Donati, M. Alice ; Santorelli, Filippo M.

In: Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology, Vol. 39, No. 4, 01.12.2020, p. 218-221.

Research output: Contribution to journal › Article › peer-review

Dosi, C , Rubegni, A , Cassandrini, D, Malandrini, A, Maggi, L , Donati, MA & Santorelli, FM 2020, 'Alpha-sarcoglycanopathy presenting as myalgia and hyperCKemia in two adults with a long-term follow-up. Case reports', Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology, vol. 39, no. 4, pp. 218-221. https://doi.org/10.36185/2532-1900-025

Dosi, Claudia ; Rubegni, Anna ; Cassandrini, Denise ; Malandrini, Alessandro ; Maggi, Lorenzo ; Donati, M. Alice ; Santorelli, Filippo M. / Alpha-sarcoglycanopathy presenting as myalgia and hyperCKemia in two adults with a long-term follow-up. Case reports. In: Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology. 2020 ; Vol. 39, No. 4. pp. 218-221.

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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.",

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

Abstract

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