Open AccessAutosomal dominant segregation of CAPN3 c.598_612del15 associated with a mild form of calpainopathy
Author(s) -
Cerino Mathieu,
Bartoli Marc,
Riccardi Florence,
Le Goanvic Brigitte,
Blanck Véronique,
Salvi Alexandra,
Lévy Nicolas,
Krahn Martin,
Choumert Ariane
Publication year - 2020
Publication title -
annals of clinical and translational neurology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.824
H-Index - 42
ISSN - 2328-9503
DOI - 10.1002/acn3.51193
Subject(s) - medicine , cohort , muscular dystrophy , limb girdle muscular dystrophy , genetics , phenotype , biology , gene