Associated Papers
Experiences from dual genome next-generation sequencing panel testing for mitochondrial disorders: a comprehensive molecular diagnosis.
Gorman E et al.
Frontiers in Genetics, 2025
40110048 (PubMed )
Supplement: Table2.xlsx › Supplementary_Table_2
Clinical features and new molecular findings in muscle phosphofructokinase deficiency (GSD type VII).
Musumeci O et al.
Neuromuscular Disorders : Nmd, 2012
[Exercise-induced muscle pain due to phosphofrutokinase deficiency: Diagnostic contribution of metabolic explorations (exercise tests, 31P-nuclear magnetic resonance spectroscopy)].
Drouet A et al.
Revue Neurologique, 0
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