Associated Papers
Pathogenic variation underlying rare diseases in an Arab population: Implications for screening programs.
Jain R et al.
Genetics in Medicine Open, 2025
40893834 (PubMed )
Supplement: mmc1.xlsx › Supplementary_Table_1
Utility of clinical exome sequencing in a complex Emirati pediatric cohort.
Mahfouz NA et al.
Computational and Structural Biotechnology Journal, 2020
Clinical and genetic spectrum of sarcoglycanopathies in a large cohort of Chinese patients.
Xie Z et al.
Orphanet Journal of Rare Diseases, 2019
Sarcolemmal alpha and gamma sarcoglycan protein deficiencies in Turkish siblings with a novel missense mutation in the alpha sarcoglycan gene.
Diniz G et al.
Pediatric Neurology, 2014
Private beta- and gamma-sarcoglycan gene mutations: evidence of a founder effect in Northern Italy.
Fanin M et al.
Human Mutation, 2000
Mutational diversity and hot spots in the alpha-sarcoglycan gene in autosomal recessive muscular dystrophy (LGMD2D).
Carrié A et al.
Journal of Medical Genetics, 1997
Mutations in the sarcoglycan genes in patients with myopathy.
Duggan DJ et al.
The New England Journal of Medicine, 1997
Adhalin gene mutations and autosomal recessive limb-girdle muscular dystrophy.
Campbell KP
Annals of Neurology, 1995
Primary adhalin deficiency as a cause of muscular dystrophy in patients with normal dystrophin.
Ljunggren A et al.
Annals of Neurology, 1995
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