Severe multisystem pathology, metabolic acidosis, mitochondrial dysfunction, and early death associated with an X-linked <i>AIFM1</i> variant.

Moss, Tonya; May, Melanie; Flanagan-Steet, Heather; Caylor, Raymond; Jiang, Yong-Hui; McDonald, Marie; Friez, Michael; McConkie-Rosell, Allyn; Steet, Richard

Severe multisystem pathology, metabolic acidosis, mitochondrial dysfunction, and early death associated with an X-linked AIFM1 variant.

Moss, Tonya; May, Melanie; Flanagan-Steet, Heather; Caylor, Raymond; Jiang, Yong-Hui; McDonald, Marie; Friez, Michael; McConkie-Rosell, Allyn; Steet, Richard.

Afiliación

Moss T; Greenwood Genetic Center, Greenwood, South Carolina 29646, USA.
May M; Greenwood Genetic Center, Greenwood, South Carolina 29646, USA.
Flanagan-Steet H; Greenwood Genetic Center, Greenwood, South Carolina 29646, USA.
Caylor R; Greenwood Genetic Center, Greenwood, South Carolina 29646, USA.
Jiang YH; Department of Genetics and Pediatrics, Yale School of Medicine, New Haven, Connecticut 06520, USA.
McDonald M; Division of Medical Genetics, Duke University Medical Center, Durham, North Carolina 27710, USA.
Friez M; Greenwood Genetic Center, Greenwood, South Carolina 29646, USA.
McConkie-Rosell A; Division of Medical Genetics, Duke University Medical Center, Durham, North Carolina 27710, USA.
Steet R; Greenwood Genetic Center, Greenwood, South Carolina 29646, USA.

Cold Spring Harb Mol Case Stud ; 7(3)2021 06.

Article en En | MEDLINE | ID: mdl-34117073

Asunto(s)

Acidosis/genética; Acidosis/patología; Factor Inductor de la Apoptosis/genética; Genes Ligados a X/genética; Mitocondrias/genética; Mitocondrias/metabolismo; Acidosis/metabolismo; Adolescente; Adulto; Apoptosis; Ataxia/genética; Ataxia Cerebelosa/genética; Niño; Femenino; Humanos; Masculino; Encefalomiopatías Mitocondriales/genética; Miopatías Mitocondriales/genética; Mutación Missense; Linaje; Fenotipo

Palabras clave

congenital lactic acidosis; infantile encephalopathy; lethal infantile mitochondrial myopathy; mitochondrial encephalopathy

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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Acidosis / Factor Inductor de la Apoptosis / Genes Ligados a X / Mitocondrias Tipo de estudio: Prognostic_studies / Risk_factors_studies Límite: Adolescent / Adult / Child / Female / Humans / Male Idioma: En Revista: Cold Spring Harb Mol Case Stud Año: 2021 Tipo del documento: Article País de afiliación: Estados Unidos

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