RGD Reference Report - A novel transthyretin mutation V32A in a Chinese man with late-onset amyloid polyneuropathy. - Rat Genome Database

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A novel transthyretin mutation V32A in a Chinese man with late-onset amyloid polyneuropathy.

Authors: Pica, EC  Pramono, ZA  Verma, KK  San, LP  Chee, YW 
Citation: Pica EC, etal., Muscle Nerve. 2005 Aug;32(2):223-5.
RGD ID: 1580527
Pubmed: PMID:15793844   (View Abstract at PubMed)
DOI: DOI:10.1002/mus.20331   (Journal Full-text)

We report a Chinese patient with amyloidotic polyneuropathy associated with a novel transthyretin mutation (V32A). He presented with slowly progressive sensorimotor polyneuropathy accompanied by autonomic dysfunction and cardiomyopathy by echocardiography. This mutation is likely to be associated with late onset and low-penetrance phenotype.

RGD Manual Disease Annotations    Click to see Annotation Detail View
TermQualifierEvidenceWithReferenceNotesSourceOriginal Reference(s)
Amyloid Neuropathies  IAGP 1580527 RGD 
Amyloid Neuropathies  ISOTTR (Homo sapiens)1580527; 1580527 RGD 

Objects Annotated

Genes (Rattus norvegicus)
Ttr  (transthyretin)

Genes (Mus musculus)
Ttr  (transthyretin)

Genes (Homo sapiens)
TTR  (transthyretin)


Additional Information