Familial amyloidotic polyneuropathy type I with extracellular superoxide dismutase mutation: a case report.

doi:10.1016/s0046-8177(98)90433-6

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Article

Familial amyloidotic polyneuropathy type I with extracellular superoxide dismutase mutation: a case report.

Human pathology - 1 Oct 1998

Sakashita N, Ando Y, Marklund S L, Nilsson P, Tashima K, Yamashita T, Takahashi K

Abstract excerpt

We report an autopsy case of familial amyloidotic polyneuropathy (FAP) Type I with mutations in both transthyretin (TTR) and extracellular superoxide dismutase (EC-SOD). This patient started to develop peripheral neuropathy at age 25, followed by cardiac, renal, and autonomic nervous system failu...

Topics

Adult
Amyloid Neuropathies
Extracellular Space
Genotype
Humans
Male
Mutation
Oxidative Stress
Polymerase Chain Reaction
Prealbumin
Superoxide Dismutase

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