Amyloid polyneuropathy, familial

Developmental and genetic diseases

18q11.2-q12.1 Google OMIM PubMed Wikipedia [Amyloid polyneuropathy, Andrade or Portuguese type]

Amyloid polyneuropathy, familial

*Gene map locus 18q11.2-q12.1

[Clinical features: progressive peripheral polyneuropathy]

[Inheritance: autosomal dominant]


Familial Amyloid Polyneuropathy: Hypertrophy of Ligaments Supporting the Spinal Cord	Familial Amyloid Polyneuropathy: Hypertrophy of Ligaments Supporting the Spinal Cord	Familial Amyloid Polyneuropathy: Hypertrophy of Ligaments Supporting the Spinal Cord
American Journal of Neuroradiology	American Journal of Neuroradiology	American Journal of Neuroradiology


Familial amyloidotic polyneuropathy with muscle, vitreous, leptomeningeal, and cardiac involvement: phenotypic, pathological, and MRI description	Familial amyloidotic polyneuropathy with muscle, vitreous, leptomeningeal, and cardiac involvement: phenotypic, pathological, and MRI description	Familial amyloidotic polyneuropathy with muscle, vitreous, leptomeningeal, and cardiac involvement: phenotypic, pathological, and MRI description
Annals of Indian Academy of Neurology	Annals of Indian Academy of Neurology	Annals of Indian Academy of Neurology


Early onset vitreous amyloidosis in familial amyloidotic polyneuropathy with a transthyretin Glu54Gly mutation is associated with elevated vitreous VEGF	Early onset vitreous amyloidosis in familial amyloidotic polyneuropathy with a transthyretin Glu54Gly mutation is associated with elevated vitreous VEGF	Early onset vitreous amyloidosis in familial amyloidotic polyneuropathy with a transthyretin Glu54Gly mutation is associated with elevated vitreous VEGF
British Journal of Ophthalmology	British Journal of Ophthalmology	British Journal of Ophthalmology


Myocardial Muscarinic Receptor Upregulation and Normal Response to Isoproterenol in Denervated Hearts by Familial Amyloid Polyneuropathy	A novel amyloidogenic transthyretin variant, Gly53Ala, associated with intermittent headaches and ataxia	Changes in renal function in patients with familial amyloid polyneuropathy treated with orthotopic liver transplantation
Circulation	Journal of Neurology, Neurosurgery and Psychiatry	Nephrology Dialysis Transplantation

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Edited by Aldo Campana, August 21, 2012