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MORC2 mutations have been described as a rare cause of axonal Charcot–Marie–Tooth disease (CMT2Z). The aim of this work was to determine the frequency and distribution of these mutations throughout… Click to show full abstract
MORC2 mutations have been described as a rare cause of axonal Charcot–Marie–Tooth disease (CMT2Z). The aim of this work was to determine the frequency and distribution of these mutations throughout Spain, to provide a comprehensive phenotypical description and, if possible, to establish a genotype–phenotype correlation.
Keywords:
marie tooth;
morc2 mutations;
charcot marie;
tooth disease
Journal Title: European Journal of Neurology
Year Published: 2021
Link to full text (if available)
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Journal Title: European Journal of Neurology
Year Published: 2021
Link to full text (if available)
Share on Social Media: Sign Up to like & get
recommendations!