Martinez-Thompson, Jennifer M

A novel CAPN3 mutation in late-onset limb-girdle muscular dystrophy with early respiratory insufficiency. [electronic resource] - Journal of clinical neuroscience : official journal of the Neurosurgical Society of Australasia Jul 2018 - 229-231 p. digital

Publication Type: Case Reports; Journal Article

1532-2653

10.1016/j.jocn.2018.04.025 doi


Aged
Biopsy
Calpain--genetics
Exons
Humans
Male
Muscle Proteins--genetics
Muscular Dystrophies, Limb-Girdle--complications
Mutation
Respiratory Insufficiency--genetics