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Título

A newly distal hereditary motor neuropathy caused by a rare AIFM1 mutation

AutorSancho, Paula; Sánchez-Monteagudo, Ana; Collado, Antonio; Marco-Marín, Clara ; Domínguez-Gonzalez, Cristina; Camacho, Ana ; Knecht, Erwin; Espinós, Carmen ; Lupo, Vincenzo
Palabras claveAIFM1
Apoptosis inducing factor
Gene panel
Inherited peripheral neuropathies
Mitochondrial disorder
Fecha de publicacióndic-2017
EditorSpringer
CitaciónNeurogenetics 18(4):245-250 (2017)
ResumenIn two siblings, who suffer from an early childhood-onset axonal polyneuropathy with exclusive involvement of motor fibers, the c.629T>C (p.F210S) mutation was identified in the X-linked AIFM1 gene, which encodes for the apoptosis-inducing factor (AIF). The mutation was predicted as deleterious, according to in silico analysis. A decreased expression of the AIF protein, altered cellular morphology, and a fragmented mitochondrial network were observed in the proband's fibroblasts. This new form of motor neuropathy expands the phenotypic spectrum of AIFM1 mutations and therefore, the AIFM1 gene should be considered in the diagnosis of hereditary motor neuropathies.
Descripción6 Páges, 1 Figure, 1 Table. The online version of this article (https://doi.org/10.1007/s10048-017-0524-6) contains supplementary material, which is available to authorized users.
Versión del editorhttp://dx.doi.org/10.1007/s10048-017-0524-6
URIhttp://hdl.handle.net/10261/171089
DOI10.1007/s10048-017-0524-6
ISSN1364-6745
E-ISSN1364-6753
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