HAL (France)
open access
Novel Dominant Splicing Variant in MPZ Associated With Unusual Charcot–Marie–Tooth Disease
ABSTRACT Background and Aims Variants in the myelin protein zero coding MPZ gene are responsible for a broad spectrum of peripheral demyelinating and axonal neuropathies, including different types of Charcot–Marie–Tooth diseases, challenging for genotype–phenotype correlation. Methods Minigene splic
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