Associated Papers
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 › .
A proposed molecular diagnostic flowchart for myophosphorylase deficiency (McArdle disease) in blood samples from Spanish patients.
Rubio JC et al.
Human Mutation, 2007
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