EGR2 mutation enhances phenotype spectrum of Dejerine–Sottas syndrome
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KeywordsRiboflavin Compound Muscle Action Potential Facial Weakness Musculocutaneous Nerve SMN1 Gene
This work was supported by the France Génomique National infrastructure, funded as part of the “Investissements d’Avenir” program managed by the Agence Nationale pour la Recherche (contract ANR-10-INBS-09).
Compliance with ethical standards
Conflicts of interest
The authors declare that they have no conflict of interest.
The study was performed in accordance with the ethical standards statement.
The parents of the child signed an informed consent for the publication of the child’s photographs. All genetic tests were performed with the patients’ informed consent.
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