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Comment
. 2018 May 29:8:568.
doi: 10.7916/D8795MXR. eCollection 2018.

Dystonia is a Common Phenotypic Feature of MEGDEL Syndrome

Josef Finsterer  1 , Fulvio A Scorza  2 , Ana C Fiorini  3 , Carla A Scorza  2 , Antonio Carlos Almeida  4
Affiliations
Comment

Dystonia is a Common Phenotypic Feature of MEGDEL Syndrome

Josef Finsterer et al. Tremor Other Hyperkinet Mov (N Y). .

Abstract

In Response To: Giron C, Roze E, Degos, B, Méneret A, Jardel C, Lannuzel A, et al. Adult-onset generalized dystonia as the main manifestation of MEGDEL syndrome. Tremor Other Hyperkinet Mov. 2018; 8. doi: 10.7916/D8VM5VBQ.

Keywords: LHON; MEGDEL; SERAC1; mitochondrial DNA; multisystem; respiratory chain.

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Conflict of interest statement

Funding: None. Conflict of Interests: The authors report no conflict of interest. Ethics Statement: Not applicable for this category of article.

Comment on

References

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    1. Finsterer J, Scorza FA, Fiorini AC, Scorza CA, Almeida AC. MEGDEL syndrome. J Child Neurol. 2018 (in press)
    1. Roeben B, Schüle R, Ruf S, Bender B, Alhaddad B, Benkert T, et al. SERAC1 deficiency causes complicated HSP: evidence from a novel splice mutation in a large family. J Med Genet. 2018;55:39–47. doi: 10.1136/jmedgenet-2017-104622. - DOI - PubMed

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