Reply: Autosomal dominant segregation of CAPN3 c.598_612del15 associated with a mild form of calpainopathy

Babi Ramesh Reddy Nallamilli¹, Samya Chakravorty^{2

3

4}, Akanchha Kesari¹, Lora Bean¹, Madhuri Hegde¹

Affiliations

¹ PerkinElmer Genomics, Waltham, Massachusetts, USA.
² Department of Pediatrics and Human Genetics, Emory University School of Medicine, Atlanta, Georgia, USA.
³ Neurosciences Division, Children's Healthcare of Atlanta, Atlanta, Georgia, USA.
⁴ School of Biological Sciences, Georgia Institute of Technology, Atlanta, Georgia, USA.

Comment

Babi Ramesh Reddy Nallamilli et al. Ann Clin Transl Neurol. 2020 Dec.

. 2020 Dec;7(12):2541.

doi: 10.1002/acn3.51192. Epub 2020 Oct 15.

Babi Ramesh Reddy Nallamilli¹, Samya Chakravorty^{2

3

4}, Akanchha Kesari¹, Lora Bean¹, Madhuri Hegde¹

¹ PerkinElmer Genomics, Waltham, Massachusetts, USA.
² Department of Pediatrics and Human Genetics, Emory University School of Medicine, Atlanta, Georgia, USA.
³ Neurosciences Division, Children's Healthcare of Atlanta, Atlanta, Georgia, USA.
⁴ School of Biological Sciences, Georgia Institute of Technology, Atlanta, Georgia, USA.

No abstract available

Conflict of interest statement

The authors have no conflict of interest to declare.

Genetic landscape and novel disease mechanisms from a large LGMD cohort of 4656 patients.
Nallamilli BRR, Chakravorty S, Kesari A, Tanner A, Ankala A, Schneider T, da Silva C, Beadling R, Alexander JJ, Askree SH, Whitt Z, Bean L, Collins C, Khadilkar S, Gaitonde P, Dastur R, Wicklund M, Mozaffar T, Harms M, Rufibach L, Mittal P, Hegde M. Nallamilli BRR, et al. Ann Clin Transl Neurol. 2018 Dec 1;5(12):1574-1587. doi: 10.1002/acn3.649. eCollection 2018 Dec. Ann Clin Transl Neurol. 2018. PMID: 30564623 Free PMC article.
Autosomal dominant segregation of CAPN3 c.598_612del15 associated with a mild form of calpainopathy.
Cerino M, Bartoli M, Riccardi F, Le Goanvic B, Blanck V, Salvi A, Lévy N, Krahn M, Choumert A. Cerino M, et al. Ann Clin Transl Neurol. 2020 Dec;7(12):2538-2540. doi: 10.1002/acn3.51193. Epub 2020 Oct 27. Ann Clin Transl Neurol. 2020. PMID: 33107701 Free PMC article. No abstract available.

1. Cerino M, Bartoli M, Riccardi F, et al. Autosomal dominant segregation of CAPN3 c.598_612del15 associated with a mild form of calpainopathy. Ann Clin Transl Neurol 2020; In press. - PMC - PubMed
1. Vissing J, Barresi R, Witting N, et al. A heterozygous 21‐bp deletion in CAPN3 causes dominantly inherited limb girdle muscular dystrophy. Brain 2016;139(Pt 8):2154–2163. - PubMed
1. Straub V, Murphy A, Udd B, group Lws . 229th ENMC international workshop: Limb girdle muscular dystrophies ‐ Nomenclature and reformed classification Naarden, the Netherlands, 17–19 March 2017. Neuromuscul Disord 2018;28:702–710. - PubMed
1. Martinez‐Thompson JM, Niu Z, Tracy JA, et al. Autosomal dominant calpainopathy due to heterozygous CAPN3 C.643_663del21. Muscle Nerve 2018;57:679–683. - PMC - PubMed
1. Cerino M, Campana‐Salort E, Salvi A, et al. Novel CAPN3 variant associated with an autosomal dominant calpainopathy. Neuropathol Appl Neurobiol 2020. - PubMed