Early-onset multisystem mitochondrial disorder caused by a nonsense mutation in the mitochondrial DNA cytochrome C oxidase II gene

Annals of Neurology

Volumn 50, Issue 3, 2001, Pages 409-413

  Campos, Yolanda ^a   García Redondo, Alberto ^a   Fernández Moreno, Miguel A ^b   Martínez Pardo, Mercedes ^c   Goda, Guillermo ^a   Rubio, Juan C ^a   Martín, Miguel A ^a   Del Hoyo, Pilar ^a   Cabello, Ana ^a   Bornstein, Belen ^b   Garesse, Rafael ^b   Arenas, Joaquín ^a,d  

^a Hospital Universitario   (Spain)

^b INSTITUTO DE INVESTIGACIONES BIOMÉDICAS ALBERTO SOLS   (Spain)

^c HOSPITAL RAMÓN Y CAJAL   (Spain)

^d HOSPITAL UNIVERSITARIO 12 DE OCTUBRE   (Spain)

Author keywords

[No Author keywords available]

Indexed keywords

CYTOCHROME C OXIDASE; HOLOENZYME; MITOCHONDRIAL DNA;

ARTICLE; BLOOD; CASE REPORT; CONTROLLED STUDY; DISORDERS OF MITOCHONDRIAL FUNCTIONS; ENZYME DEFICIENCY; FEMALE; FIBROBLAST; HUMAN; HUMAN CELL; HUMAN TISSUE; IMMUNOBLOTTING; IMMUNOHISTOCHEMISTRY; MUSCLE; NONSENSE MUTATION; ONSET AGE; PRESCHOOL CHILD; PRIORITY JOURNAL; PROTEIN ASSEMBLY;

EID: 0034841446     PISSN: 03645134     EISSN: None     Source Type: Journal    
DOI: 10.1002/ana.1141     Document Type: Article

References (20)

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