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Amyloid
The Journal of Protein Folding Disorders
Volume 25, 2018 - Issue 3
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Letter to the Editor

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

Kavisha PatelDepartment of Internal Medicine, Jacobi Medical Center, Albert Einstein College of Medicine, Bronx, NY, USA
,
Clement TagoeDepartment of Rheumatology, Montefiore Medical Center, Albert Einstein College of Medicine, Bronx, NY, USA
,
Phyllis BieriSaul Korey Department of Neurology, Montefiore Medical Center, Albert Einstein College of Medicine, Bronx, NY, USA
,
Karen WeidenheimSaul Korey Department of Neurology, Montefiore Medical Center, Albert Einstein College of Medicine, Bronx, NY, USA;Department of Pathology, Montefiore Medical Center, Albert Einstein College of Medicine, Bronx, NY, USA;Davidoff Department of Neurosurgery, Montefiore Medical Center, Albert Einstein College of Medicine, Bronx, NY, USA
&
James M. TaurasDepartment of Cardiology, Montefiore Medical Center, Albert Einstein College of Medicine, Bronx, NY, USACorrespondence[email protected]
Pages 211-212 | Received 15 Jan 2018, Accepted 18 Jun 2018, Published online: 24 Jul 2018

References

  • Lachmann HJ, Booth DR, Booth SE, et al. Misdiagnosis of hereditary amyloidosis as AL (primary) amyloidosis. N Engl J Med. 2002;346:1786–1791.
  • Luigetti M, Conte A, Del Grande A, et al. TTR-related amyloidneuropathy: clinical, electrophysiological and pathological findings in 15 unrelated patients. Neurol Sci. 2013;34:1057–1063.

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