Mutation in the MICOS subunit gene APOO (MIC26) associated with an X-linked recessive mitochondrial myopathy, lactic acidosis, cognitive impairment and autistic features

Cristiane Benincá; Vanessa Zanette; Michele Brischigliaro; Mark Johnson; Aurelio Reyes; Daniel Almeida do Valle; Alan J. Robinson; Andrea Degiorgi; Anna Yeates; Bruno Augusto Telles; Julien Prudent; Enrico Baruffini; Mara Lúcia Schmitz Ferreira Santos; Ricardo Lehtonen Rodrigues de Souza; Erika Fernández‐Vizarra; Alexander J. Whitworth; Massimo Zeviani

doi:10.1136/jmedgenet-2020-106861

May 21, 2020Journal of Medical GeneticsOpen Access

Mutation in the MICOS subunit gene APOO (MIC26) associated with an X-linked recessive mitochondrial myopathy, lactic acidosis, cognitive impairment and autistic features

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Abstract

This is the first case of pathogenic mutation in APOO, causing altered MICOS assembly and neuromuscular impairment. MIC26 is involved in the assembly or stability of MICOS in humans, yeast and flies.

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Benincá et al. (2020) studied this question.

synapsesocial.com/papers/69d7cb917392c8ce61bedd6e https://doi.org/10.1136/jmedgenet-2020-106861

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Mutation in the MICOS subunit gene APOO (MIC26) associated with an X-linked recessive mitochondrial myopathy, lactic acidosis, cognitive impairment and autistic features

Abstract

Discussion

Cite This Study

Mutation in the MICOS subunit gene APOO (MIC26) associated with an X-linked recessive mitochondrial myopathy, lactic acidosis, cognitive impairment and autistic features

Abstract

Discussion

Cite This Study

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