Associated Papers
Advancing Neuropediatric Rare Disease Diagnosis Through Clinical Genome Sequencing.
Sirchia F et al.
Pediatric Neurology, 2026
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 › .
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
Extensive scanning of the calpain-3 gene broadens the spectrum of LGMD2A phenotypes.
Piluso G et al.
Journal of Medical Genetics, 2005
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