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Exome sequencing revealed variants in SGCA and SIL1 genes underlying limb girdle muscular dystrophy and Marinesco-Sjögren syndrome patients.

Molecular biology reports - 26 Jul 2024

Faheem Ali, Masud Rizwan, Nasir Rabea, Awan Zeeshan Khalid, Nasir Hammad Ali, Khan Zara Khalid, Fayyaz Hajra, Raza Syed Irfan

Abstract excerpt

BACKGROUND: Inherited neuromuscular (NMD) and neurodegenerative diseases (NDD) belong to two distinct categories that disturb different components of the nervous system, leading to a variety of different symptoms and clinical manifestations. Both NMD and NDD are a heterogeneous group of genetic conditions. Genetic variations in the SGCA and SIL1 genes have been implicated in causing Limb Girdle Muscular Dystrophy...

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PMID: 39060875
DOI: 10.1007/s11033-024-09746-5

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