<unk>  is caused by a mutation of the TTR gene, located on human chromosome 18q12.1-11.2. A replacement of valine by methionine at position 30 (TTR V30M) is the mutation most commonly found in<unk> . The transthyretin protein is a tetramer. The tetramer has to dissociate into misfolded monomers to aggregate into a variety of structures including amyloid fibrils. Because most patients are heterozygotes, they deposit both mutant and wild type TTR subnits.<unk>  is inherited in an autosomal dominant manner. This means that the defective gene responsible for the disorder is located on an autosome (chromosome 18 is an autosome), and only one copy of the defective gene is sufficient to cause the disorder, when inherited from a parent who has the disorder.
Familial amyloid polyneuropathy
Familial amyloid neuropathy
MGUS polyneuropathy
Distal hereditary motor neuropathy type V
Muscular dystrophy
Charcot–Marie–Tooth disease
Hereditary sensory and autonomic neuropathy type I
Hereditary inclusion body myopathy