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- Title
Autosomal dominant segregation of CAPN3 c.598_612del15 associated with a mild form of calpainopathy.
- Authors
Cerino, Mathieu; Bartoli, Marc; Riccardi, Florence; Le Goanvic, Brigitte; Blanck, Véronique; Salvi, Alexandra; Lévy, Nicolas; Krahn, Martin; Choumert, Ariane
- Abstract
Dear Editor, We read with interest the article published by Nallamilli and colleagues describing a large limb-girdle muscular dystrophy (LGMD) cohort of patients.1 In particular, the chapter describing the association of the I CAPN3 i variant, c.598 612del15 [p.(Phe200 Leu204del)], with an autosomal dominant form of calpainopathy. Indeed, this novel transmission mode for calpainopathies was initially suggested by Vissing and colleagues in 20162 and led to the revision of the LGMD classification, introducing the I CAPN3 i associated limb-girdle muscular dystrophy dominant type 4 (LGMDD4),3 whereas calpainopathies had until then been considered as restrictively autosomal recessive. This subclinical presentation is consistent with previous descriptions of autosomal dominant calpainopathies associated with the c.643 663del21 and the c.1333G>A I CAPN3 i variants.2,6 Thus, by describing this additional family harboring the c.598 612del15 I CAPN3 i variant, we confirm the association of this eighth variant with autosomal dominant calpainopathies (or LGMDD4).
- Subjects
LIMB-girdle muscular dystrophy; MEDICAL personnel
- Publication
Annals of Clinical & Translational Neurology, 2020, Vol 7, Issue 12, p2538
- ISSN
2328-9503
- Publication type
Article
- DOI
10.1002/acn3.51193