Novel LRPPRC compound heterozygous mutation in a child with early-onset Leigh syndrome French-Canadian type: case report of an Italian patient

Novel LRPPRC compound heterozygous mutation in a child with early-onset Leigh syndrome French-Canadian type: case report of an Italian patient

Abstract Background Mitochondrial diseases, also known as oxidative phosphorylation (OXPHOS) disorders, with a prevalence rate of 1:5000, are the most frequent inherited metabolic diseases. Leigh Syndrome French Canadian type (LSFC), is caused by mutations in the nuclear gene (2p16) leucine-rich pen...

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Bibliographic Details
Main Authors: Ettore Piro, Gregorio Serra, Vincenzo Antona, Mario Giuffrè, Elisa Giorgio, Fabio Sirchia, Ingrid Anne Mandy Schierz, Alfredo Brusco, Giovanni Corsello
Format: Article
Language:English
Published: BMC 2020-09-01
Series:Italian Journal of Pediatrics
Subjects:
LSFC
Mitochondrial disease
Hypotonia - developmental delay
Whole-exome sequencing
Online Access:http://link.springer.com/article/10.1186/s13052-020-00903-7

Internet

http://link.springer.com/article/10.1186/s13052-020-00903-7

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