A single c.1715G>C calpain 3 gene variant causes dominant calpainopathy with loss of calpain 3 expression and activity

European muscle MRI study in limb girdle muscular dystrophy type R1/2A (LGMDR1/LGMD2A)

(2019) Andrea Barp et al.   JOURNAL OF NEUROLOGY

Genetic landscape and novel disease mechanisms from a large LGMD cohort of 4656 patients

(2018) Babi Ramesh Reddy Nallamilli et al.   Annals of Clinical and Translational Neurology

Autosomal dominant calpainopathy due to heterozygous CAPN3 C.643_663del21

(2017) Jennifer M. Martinez-Thompson et al.   MUSCLE & NERVE

Hyperckemia and myalgia are common presentations of anoctamin-5-related myopathy in French patients

(2017) Constantinos Papadopoulos et al.   MUSCLE & NERVE

Differential glucose metabolism in mice and humans affected by McArdle disease

(2016) Thomas O. Krag et al.   AMERICAN JOURNAL OF PHYSIOLOGY-REGULATORY INTEGRATIVE AND COMPARATIVE PHYSIOLOGY

A heterozygous 21-bp deletion inCAPN3causes dominantly inherited limb girdle muscular dystrophy

(2016) John Vissing et al.   BRAIN

Calpain 3 is important for muscle regeneration: Evidence from patients with limb girdle muscular dystrophies

(2012) Simon Hauerslev et al.   BMC MUSCULOSKELETAL DISORDERS

Limb-Girdle Muscular Dystrophy Type 2A Can Result from Accelerated Autoproteolytic Inactivation of Calpain 3†

(2009) Christopher P. Garnham et al.   BIOCHEMISTRY

Cardiac Involvement in Patients With Limb-Girdle Muscular Dystrophy Type 2 and Becker Muscular Dystrophy

(2008) Marie-Louise Sveen et al.   ARCHIVES OF NEUROLOGY

cDNA analyses of CAPN3 enhance mutation detection and reveal a low prevalence of LGMD2A patients in Denmark

(2008) Morten Duno et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Calpain 3, the “gatekeeper” of proper sarcomere assembly, turnover and maintenance

(2008) Jacques S. Beckmann et al.   NEUROMUSCULAR DISORDERS