Associated Papers
A Patient with Calpainopathy Carrying Compound Heterozygous Mutations of a De Novo Pathogenic Variant of c.1333G>A and a Novel Variant of c.1331C>T in CAPN3.
Komaki S et al.
Internal Medicine (tokyo, Japan), 2024
Heterozygous CAPN3 missense variants causing autosomal-dominant calpainopathy in seven unrelated families.
González-Mera L et al.
Neuropathology and Applied Neurobiology, 2021
[Calpainopathies: state of the art and therapeutic perspectives].
Malfatti E et al.
Medecine Sciences : M/s, 2020
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