Complex p.T88N/W130R mutation in the lysozyme gene leading to hereditary lysozyme amyloidosis with biopsy-proven cardiac involvement
Amyloid
.
2017 Mar;24(1):60-61.
doi: 10.1080/13506129.2016.1269738.
Epub 2017 Mar 22.
Authors
Brett W Sperry
1
,
Angela Dispenzieri
2
3
,
Asad Ikram
1
,
Martha Grogan
4
,
Jason D Theis
2
,
Nelson Leung
5
,
W Edward Highsmith
2
,
Joseph J Maleszewski
2
4
,
Mazen Hanna
1
Affiliations
1
a Department of Cardiovascular Medicine , Cleveland Clinic Foundation , Cleveland , OH , USA.
2
b Department of Laboratory Medicine and Pathology , Rochester , MN , USA.
3
c Division of Hematology , Rochester , MN , USA.
4
d Department of Cardiovascular Diseases , Rochester , MN , USA , and.
5
e Division of Nephrology , Mayo Clinic , Rochester , MN , USA.
PMID:
28330375
DOI:
10.1080/13506129.2016.1269738
No abstract available
Publication types
Letter
MeSH terms
Adult
Amyloidosis, Familial / genetics*
Biopsy
Electrocardiography
Humans
Male
Muramidase / genetics
Mutation / genetics*
Substances
Muramidase