Abetalipoproteinaemia
Evidence-based neurology checklist on abetalipoproteinaemia: Genetics This is caused by mutations in the MTP gene The transmission is autosomal recessive It is infantile onset Pathology Central features Peripheral neuropathy (PN) features Other features Differential diagnosis (of large fiber…
Genetics
- This is caused by mutations in the MTP gene
- The transmission is autosomal recessive
- It is infantile onset
Pathology
Central features
Peripheral neuropathy (PN) features
Other features
Differential diagnosis (of large fiber neuropathy)
Treatment
References
- Zamel R, Khan R, Pollex RL, Hegele RA. Abetalipoproteinaemia: two case reports and literature review. Orphanet J Rare Dis 2008; 3:19.
- Miller RG, Davis CJF, Illingworth DR, Bradley W. The neuropathy of abetalipoproteinaemia. Neurology 1980; 30:1286-1291.
- Amato AA, Russell JA. Neuromuscular disorders. McGraw Hill New York 2008 Chapter 10.
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