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Understanding Pelizaeus-Merzbacher Disease by Daniele Zoll Araujo is a document available to read on EtoBox.
What is Understanding Pelizaeus-Merzbacher Disease about?
1. Pelizaeus-Merzbacher disease (PMD) is a rare genetic disorder caused by mutations in the PLP1 gene on the X chromosome. It usually begins in infancy and is characterized by nystagmus, hypotonia, and delayed motor and intellectual development. 2. PMD is inherited in an X-linked recessive pattern, so it primarily affects males. Females can be carriers and pass the mutation to their sons. The major types of PLP1 mutations that cause PMD are point mutations and duplications of the entire PLP1 gene. 3. Du
- Author
- Daniele Zoll Araujo
- Language
- EN