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

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 condi...

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Veröffentlicht in:	Molecular biology reports 2024-12, Vol.51 (1), p.853, Article 853
Hauptverfasser:	Faheem, Ali, Masud, Rizwan, Nasir, Rabea, Awan, Zeeshan Khalid, Nasir, Hammad Ali, Khan, Zara Khalid, Fayyaz, Hajra, Raza, Syed Irfan
Format:	Artikel
Sprache:	eng
Schlagworte:	Adolescent Adult Animal Anatomy Animal Biochemistry Atrophy Biomedical and Life Sciences Child Children Creatine Creatine kinase Echocardiography Electromyography Epidemiology Exome - genetics Exome Sequencing - methods Female Genes Genetic analysis Genetic counseling Genetic diversity Geographical distribution Guanine Nucleotide Exchange Factors - genetics Histology Humans Kinases Life Sciences Magnetic resonance imaging Male Morphology Muscle Proteins - genetics Muscular Dystrophies, Limb-Girdle - genetics Muscular dystrophy Mutation Mutation - genetics Nerve conduction Nervous system Neurodegenerative diseases Neuroimaging Original Article Pedigree Population genetics Population studies Rho Guanine Nucleotide Exchange Factors - genetics Sarcoglycans Sil1 protein Sjogren's syndrome Skeletal muscle Spinocerebellar Degenerations - genetics Strabismus Whole genome sequencing Young Adult
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