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 › .
Metabolomes of mitochondrial diseases and inclusion body myositis patients: treatment targets and biomarkers.
Buzkova J et al.
Embo Molecular Medicine, 2018
30373890 (PubMed )
Supplement: EMMM-10-e9091-s004.xlsx › patients
FGF-21 as a biomarker for muscle-manifesting mitochondrial respiratory chain deficiencies: a diagnostic study.
Suomalainen A et al.
The Lancet. Neurology, 2011
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