Novel lrpprc compound heterozygous mutation in a child with early-onset leigh syndrome french-canadian type: case report of an italian patient

HIGHLIGHTS

• who: Ettore Piro from the Department of Health Promotion, Mother and Child Care, Internal Medicine and Medical Specialties "GD'Alessandro". University Hospital "P.Giaccone", University of Palermo, Piazza delle Cliniche, , Palermo, Italy have published the paper: Novel LRPPRC compound heterozygous mutation in a child with early-onset Leigh syndrome French-Canadian type: case report of an Italian patient, in the Journal: (JOURNAL)

SUMMARY

Leigh syndrome, French-Canadian type (LSFC, MIM#220 111) is a neurogenetic degenerative disorder caused by mutations in the nuclear gene leucine-rich pentatricopeptide repeat-containing (LRPPRC) localized on 2p16 . . .

 



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