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Archive ouverte | Cerino, Mathieu | CCSD

International audience. AimsThe most common autosomal recessive limb girdle muscular dystrophy is associated with the CAPN3 gene. The exclusively recessive inheritance of this disorder has been recently challenged b...

Splicing impact of deep exonic missense variants in CAPN3 explored systematically by minigene functional assay

Archive ouverte | Dionnet, Eugénie | CCSD

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A novel bi-allelic loss-of-function mutation in STIM1 expands the phenotype of STIM1-related diseases

Archive ouverte | Salvi, Alexandra | CCSD

International audience. STIM1, the stromal interaction molecule 1, is the key protein for maintaining calciumconcentration in the endoplasmic reticulum by triggering the Store Operated CalciumEntry (SOCE). Bi-alleli...

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