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Quoted phrase not found in phrase index: "Neuropathy, hereditary sensory and autonomic, type 2A"
Page 1
Mitochondrial dynamics and inherited peripheral nerve diseases.
Pareyson D, Saveri P, Sagnelli A, Piscosquito G. Pareyson D, et al. Neurosci Lett. 2015 Jun 2;596:66-77. doi: 10.1016/j.neulet.2015.04.001. Epub 2015 Apr 3. Neurosci Lett. 2015. PMID: 25847151 Review.
CMT2A is an axonal autosomal dominant CMT type which in most cases is characterized by early onset and rather severe course. ...OPA1 (Optic Atrophy-1) is involved in fusion of mitochondrial inner membrane, and its heterozygous mutations lead to early-onset and progr …
CMT2A is an axonal autosomal dominant CMT type which in most cases is characterized by early onset and rather severe course. . …
Novel mitofusin 2 splice-site mutation causes Charcot-Marie-Tooth disease type 2 with prominent sensory dysfunction.
Martikainen MH, Kytövuori L, Majamaa K. Martikainen MH, et al. Neuromuscul Disord. 2014 Apr;24(4):360-4. doi: 10.1016/j.nmd.2014.01.007. Epub 2014 Jan 27. Neuromuscul Disord. 2014. PMID: 24530046
Here we describe CMT2 in a Finnish man and his son, with disease onset in young adulthood, slow progression, and prominent sensory as well as autonomic dysfunction. Molecular analysis revealed in both subjects a previously unreported heterozygous MFN2 mutation c.708 …
Here we describe CMT2 in a Finnish man and his son, with disease onset in young adulthood, slow progression, and prominent sensory as …