Neuropathy, Hereditary Motor, and Sensory Types VIA and VIB
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Publisher
Springer International Publishing
Link
https://link.springer.com/content/pdf/10.1007/978-3-319-66816-1_1586-1
Reference20 articles.
1. Abrams AJ, Hufnagel RB, Rebelo A, Zanna C, Patel N, Gonzalez MA et al (2015) Mutations in SLC25A46, encoding a UGO1-like protein, cause an optic atrophy spectrum disorder. Nat Genet 47(8):926–932
2. Babu K, Seamon K, Jewell A, Harrison A, Harper A, Al Saif H et al (2022) Hereditary motor and sensory neuropathy type VIA with optic nerve pallor in two sisters with pathologic myopia: a case series and review. Ophthalmic Genet 44:379–384
3. Charlesworth G, Balint B, Mencacci NE, Carr L, Wood NW, Bhatia KP (2016) SLC25A46 mutations underlie progressive myoclonic ataxia with optic atrophy and neuropathy. Mov Disord 31(8):1249–1251
4. Chelban V, Wilson MP, Warman Chardon J, Vandrovcova J, Zanetti MN, Zamba-Papanicolaou E et al (2019) PDXK mutations cause polyneuropathy responsive to pyridoxal 5′-phosphate supplementation. Ann Neurol 86(2):225–240
5. Chung KW, Kim SB, Park KD, Choi KG, Lee JH, Eun HW, et al (2006) Early onset severe and late-onset mild Charcot-Marie-Tooth disease with mitofusin 2 (MFN2) mutations. Brain 129(Pt 8):2103–2118
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