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Genetic modifiers in rare disease have long been suspected to contribute to the considerable variance in disease expression, including Charcot–Marie–Tooth disease type 1A (CMT1A). To address this question, the Inherited… Click to show full abstract
Genetic modifiers in rare disease have long been suspected to contribute to the considerable variance in disease expression, including Charcot–Marie–Tooth disease type 1A (CMT1A). To address this question, the Inherited Neuropathy Consortium collected a large standardized sample of such rare CMT1A patients over a period of 8 years. CMT1A is caused in most patients by a uniformly sized 1.5 Mb duplication event involving the gene PMP22.
Keywords:
disease;
charcot marie;
marie tooth;
tooth disease;
disease type
Journal Title: Annals of Neurology
Year Published: 2019
Link to full text (if available)
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Journal Title: Annals of Neurology
Year Published: 2019
Link to full text (if available)
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recommendations!