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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Detalhes bibliográficos

Principais autores:	Ettore Piro, Gregorio Serra, Vincenzo Antona, Mario Giuffrè, Elisa Giorgio, Fabio Sirchia, Ingrid Anne Mandy Schierz, Alfredo Brusco, Giovanni Corsello
Formato:	Artigo
Idioma:	Inglês
Publicado em:	BMC 2020-09-01
coleção:	Italian Journal of Pediatrics
Assuntos:	LSFC Mitochondrial disease Hypotonia - developmental delay Whole-exome sequencing
Acesso em linha:	http://link.springer.com/article/10.1186/s13052-020-00903-7
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