Phenotypic heterogeneity in patients with NEFL‐related Charcot–Marie–Tooth disease
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DOI: 10.1002/mgg3.1870
Abstract: Charcot–Marie–Tooth disease (CMT) is the most common hereditary peripheral neuropathy. Mutations in the neurofilament light polypeptide (NEFL) gene produce diverse clinical phenotypes, including demyelinating (CMT1F), axonal (CMT2E), and intermediate (CMTDIG) neuropathies. From 2005 to 2020,… read more here.
Keywords: charcot marie; tooth disease; nefl related; cmt ... See more keywords