Associated Papers
TRIM32 biallelic defects cause limb-girdle muscular dystrophy R8: identification of two novel mutations and investigation of genotype-phenotype correlation.
Guan Y et al.
Skeletal Muscle, 2023
Case report: A novel patient presenting TRIM32-related limb-girdle muscular dystrophy.
Rimoldi M et al.
Frontiers in Neurology, 2023
A Comprehensive Atlas of E3 Ubiquitin Ligase Mutations in Neurological Disorders.
George AJ et al.
Frontiers in Genetics, 2018
29491882 (PubMed )
Supplement: Table2.xlsx › Sheet1
Detection of TRIM32 deletions in LGMD patients analyzed by a combined strategy of CGH array and massively parallel sequencing.
Nectoux J et al.
European Journal of Human Genetics : Ejhg, 2015
A patient with limb girdle muscular dystrophy carries a TRIM32 deletion, detected by a novel CGH array, in compound heterozygosis with a nonsense mutation.
Neri M et al.
Neuromuscular Disorders : Nmd, 2013
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