The new variant c.458C>G in CHRNA1 causes late-onset post-synaptic slow-channel congenital myasthenic syndrome Josef Finsterer; Fulvio A. Scorza; Carla A. Scorza; Ana C. Fiorini;

Hearing loss and small and large fibre neuropathy associated with the heterozygous variants c.20A>T in HBB and del-3.7 in HBA Josef Finsterer; Fulvio A. Scorza; Carla A. Scorza; Ana C. Fiorini;

mtDNA deletion m.8753_16566 with < 10 % heteroplasmy in muscle and isolated complex-V dysfunction misinterpreted as chronic fatigue syndrome over 21-years Josef Finsterer; Ana C. Fiorini; Fulvio A. Scorza; Carla A. Scorza;