A case of transthyretin amyloidosis with myopathy, neuropathy, and cardiomyopathy resulting from an exceedingly rare mutation transthyretin Ala120Ser (c.418G > T, p.Ala140Ser).

Subjects

Subjects :

Aged
Amyloid Neuropathies genetics
Amyloid Neuropathies, Familial genetics
Cardiomyopathies genetics
Humans
Male
Prognosis
Amyloid Neuropathies pathology
Amyloid Neuropathies, Familial pathology
Cardiomyopathies pathology
Mutation
Prealbumin genetics

Details

Language :

English

ISSN :

1744-2818

Volume :

25

Issue :

3

Database :

MEDLINE

Journal :

Amyloid : the international journal of experimental and clinical investigation : the official journal of the International Society of Amyloidosis

Publication Type :

Report

Accession number :

30039724

Full Text :

https://doi.org/10.1080/13506129.2018.1491398