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Showing results for Neuropathy, hereditary motor and sensory, type vi, with optic atrophy AND humans[mesh] AND review[publication type]
Your search for Neuropathy, hereditary motor and sensory, type VIc, with optic atrophy AND humans[mesh] AND review[publication type] retrieved no results
Hereditary motor and sensory neuropathy type VIA with optic nerve pallor in two sisters with pathologic myopia: a case series and review.
Babu K, Seamon K, Jewell A, Harrison A, Harper A, Al Saif H, Couser N. Babu K, et al. Ophthalmic Genet. 2023 Aug;44(4):379-384. doi: 10.1080/13816810.2022.2116651. Epub 2022 Sep 13. Ophthalmic Genet. 2023. PMID: 36098092 Review.
PURPOSE: Hereditary Motor Sensory Neuropathy Type VIA with Optic Atrophy (HMSN6A) is a rare variant subtype of mitofusin 2 (MFN2) associated Charcot-Marie-Tooth disease, with ophthalmic manifestations largely limited to optic …
PURPOSE: Hereditary Motor Sensory Neuropathy Type VIA with Optic Atrophy (HMSN6A) is a rare …
Retinal ganglion cell neurodegeneration in mitochondrial inherited disorders.
Carelli V, La Morgia C, Valentino ML, Barboni P, Ross-Cisneros FN, Sadun AA. Carelli V, et al. Biochim Biophys Acta. 2009 May;1787(5):518-28. doi: 10.1016/j.bbabio.2009.02.024. Epub 2009 Mar 5. Biochim Biophys Acta. 2009. PMID: 19268652 Free article. Review.
The first point mutation of mitochondrial DNA (mtDNA) associated with the maternally inherited blinding disorder, Leber's hereditary optic neuropathy (LHON), was recognized in 1988. In 2000, the other blinding disorder, dominant optic atrophy (D …
The first point mutation of mitochondrial DNA (mtDNA) associated with the maternally inherited blinding disorder, Leber's hereditary …
[A case of hereditary motor and sensory neuropathy with pyramidal tract sign, optic nerve atrophy and mental retardation].
Adachi T, Imaoka K, Shirasawa A, Yamaguchi S, Kobayashi S. Adachi T, et al. Rinsho Shinkeigaku. 1998 Dec;38(12):1037-41. Rinsho Shinkeigaku. 1998. PMID: 10349345 Review. Japanese.
Onion bulb formation was not observed. We classified this case as hereditary motor and sensory neuropathy (HMSN) type II based on nerve conduction studies and findings from sural nerve biopsy. HMSN with pyramidal tract sign has been classified a …
Onion bulb formation was not observed. We classified this case as hereditary motor and sensory neuropathy (HMSN) …