Associated Papers
Family and literature analysis demonstrates phenotypic effect of two variants in the calpain-3 gene.
Tomforde M et al.
Neurogenetics, 2023
37589857 (PubMed )
Supplement: 10048_2023_728_MOESM2_ESM.xlsx › c.1746-20C_G
ISPD mutations account for a small proportion of Italian Limb Girdle Muscular Dystrophy cases.
Magri F et al.
Bmc Neurology, 2015
26404900 (PubMed )
Supplement: 12883_2015_428_MOESM1_ESM.pdf
Transcriptional and translational effects of intronic CAPN3 gene mutations.
Nascimbeni AC et al.
Human Mutation, 2010
How to tackle the diagnosis of limb-girdle muscular dystrophy 2A.
Fanin M et al.
European Journal of Human Genetics : Ejhg, 2009
Select a paper to view details