Novel CAPN3 variant associated with an autosomal dominant calpainopathy.
Cerino, M
Novel CAPN3 variant associated with an autosomal dominant calpainopathy. [electronic resource] - Neuropathology and applied neurobiology 10 2020 - 564-578 p. digital
Publication Type: Journal Article; Research Support, Non-U.S. Gov't
1365-2990
10.1111/nan.12624 doi
Adolescent
Adult
Aged
Aged, 80 and over
Calpain--genetics
Chromosome Aberrations
Female
France
Genes, Dominant--genetics
Genetic Variation
Humans
Male
Middle Aged
Muscle Proteins--genetics
Mutation--genetics
Neuromuscular Diseases--genetics
Pedigree
Phenotype
Young Adult
Novel CAPN3 variant associated with an autosomal dominant calpainopathy. [electronic resource] - Neuropathology and applied neurobiology 10 2020 - 564-578 p. digital
Publication Type: Journal Article; Research Support, Non-U.S. Gov't
1365-2990
10.1111/nan.12624 doi
Adolescent
Adult
Aged
Aged, 80 and over
Calpain--genetics
Chromosome Aberrations
Female
France
Genes, Dominant--genetics
Genetic Variation
Humans
Male
Middle Aged
Muscle Proteins--genetics
Mutation--genetics
Neuromuscular Diseases--genetics
Pedigree
Phenotype
Young Adult