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
Clinical and Genetic Re-Evaluation of Inherited Retinal Degeneration Pedigrees following Initial Negative Findings on Panel-Based Next Generation Sequencing.
Stephenson KAJ et al.
International Journal of Molecular Sciences, 2022
A novel homozygous exon2 deletion of TRIM32 gene in a Chinese patient with sarcotubular myopathy: A case report and literature review.
Wei XJ et al.
Bosnian Journal of Basic Medical Sciences, 2021
Extending the clinical and mutational spectrum of TRIM32-related myopathies in a non-Hutterite population.
Johnson K et al.
Journal of Neurology, Neurosurgery, and Psychiatry, 2019
29921608 (PubMed )
Supplement: jnnp-2018-318288supp003.pdf
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