Complex p.T88N/W130R mutation in the lysozyme gene leading to hereditary lysozyme amyloidosis with biopsy-proven cardiac involvement

Brett W. SperryDepartment of Cardiovascular Medicine, Cleveland Clinic Foundation, Cleveland, OH, USA,

Angela DispenzieriDepartment of Laboratory Medicine and Pathology, Rochester, MN, USA, ;Division of Hematology, Rochester, MN, USA,

Asad IkramDepartment of Cardiovascular Medicine, Cleveland Clinic Foundation, Cleveland, OH, USA,

Martha GroganDepartment of Cardiovascular Diseases, Rochester, MN, USA, and

Jason D. TheisDepartment of Laboratory Medicine and Pathology, Rochester, MN, USA,

Nelson LeungDivision of Nephrology, Mayo Clinic, Rochester, MN, USA

W. Edward HighsmithDepartment of Laboratory Medicine and Pathology, Rochester, MN, USA,

Joseph J. MaleszewskiDepartment of Laboratory Medicine and Pathology, Rochester, MN, USA, ;Department of Cardiovascular Diseases, Rochester, MN, USA, and

Mazen HannaDepartment of Cardiovascular Medicine, Cleveland Clinic Foundation, Cleveland, OH, USA, Correspondence[email protected]

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References

Gillmore JD, Booth DR, Madhoo S, Pepys MB, Hawkins PN. Hereditary renal amyloidosis associated with variant lysozyme in a large English family. Nephrol Dial Transplant 1999;14:2639–44.
PubMed Web of Science ®Google Scholar
Pepys MB, Hawkins PN, Booth DR, Vigushin DM, Tennet GA, Soutar AK, Totty N, et al. Human lysozyme gene mutations cause hereditary systemic amyloidosis. Nature 1993;362:553–7.
PubMed Web of Science ®Google Scholar
Harrison RF, Hawkins PN, Roche WR, MacMahon RF, Hubscher SG, Buckels JA. ‘Fragile’ liver and massive hepatic haemorrhage due to hereditary amyloidosis. Gut 1996;38:151–2.
PubMed Web of Science ®Google Scholar
Benson MD. Chapter 5: the hereditary amyloidoses, in amyloid and related disorders surgical pathology and clinical correlations. Curr Clin Pathol 2015;76.
Google Scholar
Rocken C, Becker K, Fandrich M, Schroeckh V, Stix B, Rath T, Kahne T, et al. ALys amyloidosis caused by compound heterozygosity in exon 2 (Thr70Asn) and exon 4 (Trp112Arg) of the lysozyme gene. Hum Mutat 2006;27:119–20.
PubMedGoogle Scholar

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Complex p.T88N/W130R mutation in the lysozyme gene leading to hereditary lysozyme amyloidosis with biopsy-proven cardiac involvement

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Complex p.T88N/W130R mutation in the lysozyme gene leading to hereditary lysozyme amyloidosis with biopsy-proven cardiac involvement

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