Associated Papers
Experiences in the molecular genetic and histopathological evaluation of calpainopathies.
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Neurogenetics, 2022
Impact of next-generation sequencing panels in the evaluation of limb-girdle muscular dystrophies.
Özyilmaz B et al.
Annals of Human Genetics, 2019
ISPD mutations account for a small proportion of Italian Limb Girdle Muscular Dystrophy cases.
Magri F et al.
Bmc Neurology, 2015
26404900 (PubMed )
Supplement: 12883_2015_428_MOESM1_ESM.pdf
Mutations in Czech LGMD2A patients revealed by analysis of calpain3 mRNA and their phenotypic outcome.
Chrobáková T et al.
Neuromuscular Disorders : Nmd, 2004
Molecular diagnosis in LGMD2A: mutation analysis or protein testing?
Fanin M et al.
Human Mutation, 2004
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