Associated Papers
Genetic findings in Czech patients with limb girdle muscular dystrophy.
Zídková J et al.
Clinical Genetics, 2023
Novel CAPN3 variant associated with an autosomal dominant calpainopathy.
Cerino M et al.
Neuropathology and Applied Neurobiology, 2020
Sequential targeted exome sequencing of 1001 patients affected by unexplained limb-girdle weakness.
Töpf A et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2020
32528171 (PubMed )
Supplement: 41436_2020_840_MOESM10_ESM.xlsx › .
European muscle MRI study in limb girdle muscular dystrophy type R1/2A (LGMDR1/LGMD2A).
Barp A et al.
Journal of Neurology, 2020
Global N-linked Glycosylation is Not Significantly Impaired in Myoblasts in Congenital Myasthenic Syndromes Caused by Defective Glutamine-Fructose-6-Phosphate Transaminase 1 (GFPT1).
Chen Q et al.
Biomolecules, 2015
Novel mutations in the calpain 3 gene in Germany.
Todorova A et al.
Clinical Genetics, 2005
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