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Clinical, genetic profile and disease progression of sarcoglycanopathies in a large cohort from India: high prevalence of SGCB c.544A > C

Neurogenetics, Vol. 23, Issue 3, Pages 187-202, 2022

PMID: 35416532

The clinico-genetic architecture of sarcoglycanopathies in Indian patients is reported only as short series. In the present study, we aimed to investigate the clinical picture, genetic basis, and disease progression of patients genetically confirmed to have sarcoglycanopathy. Next-generation sequencing was performed in 68 probands with suspected sarcoglycanopathy.

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  https://www.ncbi.nlm.nih.gov/pubmed/35416532

 

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