Lethal neonatal LTBL associated with biallelic ears2 variants: case report and review of the reported neuroradiological features

JIMD Reports

Volumn 33, Issue , 2017, Pages 61-68

  Oliveira, Renata ^a   Sommerville, Ewen W ^b   Thompson, Kyle ^b   Nunes, Joana ^c   Pyle, Angela ^b   Grazina, Manuela ^d,e   Chinnery, Patrick F ^f,g   Diogo, Luísa ^h   Garcia, Paula ^h   Taylor, Robert W ^b  

^a Centro Hospitalar Universitário de São João   (Portugal)

^b NEWCASTLE UNIVERSITY   (United Kingdom)

^c CENTRO HOSPITALAR DE VILA NOVA DE GAIA ESPINHO   (Portugal)

^d UNIVERSITY OF COIMBRA   (Portugal)

^e UNIVERSITY OF COIMBRA   (Portugal)

^f UNIVERSITY OF CAMBRIDGE   (United Kingdom)

^g UNIVERSITY OF CAMBRIDGE   (United Kingdom)

^h CENTRO HOSPITALAR E UNIVERSITÁRIO DE COIMBRA   (Portugal)

Author keywords

Early onset mitochondrial disease; EARS2; LTBL; Mitochondrial translation defects

Indexed keywords

EID: 85045213262     PISSN: 21928304     EISSN: 21928312     Source Type: Book Series    
DOI: 10.1007/8904_2016_581     Document Type: Chapter

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