Laboratory Genomics

HEREDITARY NEURONAL AND MUSCULAR DISORDERS (ADVANCED)

Learning Lab Advanced

Author information
Jude M. Abadie, PhD, DABCC(C&T), FAACC
Dr Abadie disclosed no conflict of interest

Learning objectives:

  • Describe the pathogenesis of neuronal genetic disorders related to copper and iron dysregulation
  • Explain genetic consequences of mutations that lead to neurometabolic disorders
  • Identify genetic lesions that lead to different muscular dystrophies and their phenotypic consequences
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