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Novel CAPN3 variant associated with an autosomal dominant calpainopathy

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...

Genetic Profile of Patients with Limb-Girdle Muscle Weakness in the Chilean Population

Archive ouverte | Cerino, Mathieu | CCSD

International audience. Hereditary myopathies are a group of genetically determined muscle disorders comprising more than 300 entities. In Chile, there are no specific registries of the distinct forms of these myopa...

Novel Exon-Skipping Therapeutic Approach for the DMD Gene Based on Asymptomatic Deletions of Exon 49

Archive ouverte | Abaji, Mario | CCSD

International audience. Exon skipping is a promising therapeutic approach. One important condition for this approach is that the exon-skipped form of the gene can at least partially perform the required function and...

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