[Ultrastructural lesions of axonal mitochondria in patients with childhood-onset Charcot-Marie-Tooth disease due to MFN2 mutations].


We present neuropathological findings based on sural nerve biopsy in six children with mutations of the mitofusin 2 gene (MFN2). All six children had severe axonal neuropathies (mild or severe hereditary motor and sensory neuropathy, HMSN), with onset in early childhood. All had a marked decrease in the density of mainly large myelinated fibers. Although… (More)


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