[A late onset familial amyloidotic polyneuropathy (FAP) with a novel variant transthyretin characterized by a basic-for-acidic amino acid substitution (Glu61-->Lys)].

Article

[A late onset familial amyloidotic polyneuropathy (FAP) with a novel variant transthyretin characterized by a basic-for-acidic amino acid substitution (Glu61-->Lys)].

Rinsho shinkeigaku = Clinical neurology - 1 Sept 1996

Yamamoto T, Matsunaga K, Ohnishi A, Nakazato M, Murai Y

Abstract excerpt

A 64-year-old man has suffered from intractable diarrhea since January 1990. He noticed numbness and weakness in the distal portion of four extremities in the following several months. His symptoms were gradually progressive. In June 1992, neurological examination revealed mild muscular atrophy a...

Topics

Age of Onset
Amino Acid Sequence
Amyloid Neuropathies
Female
Genetic Variation
Humans
Male
Middle Aged
Pedigree
Prealbumin

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