Intra-familial variability of oculoleptomeningeal amyloidosis due to the ATTR I107M (c.381T > G) mutation: diagnostic challenges of a rare phenotype
Amyloid
.
2024 Mar;31(1):70-72.
doi: 10.1080/13506129.2023.2260537.
Epub 2023 Sep 27.
Authors
Monica Alcantara
1
,
Vera Bril
1
Affiliation
1
Department of Medicine, Division of Neurology, University of Toronto, Toronto, Canada.
PMID:
37755317
DOI:
10.1080/13506129.2023.2260537
No abstract available
Publication types
Case Reports
MeSH terms
Amyloid Neuropathies, Familial* / diagnosis
Amyloid Neuropathies, Familial* / genetics
Humans
Mutation
Phenotype
Prealbumin / genetics
Substances
Prealbumin