Article
Exons 16 and 17 of the amyloid precursor protein gene in familial inclusion body myopathy.
Annals of neurology - 1 Aug 1995
Sivakumar K, Cervenáková L, Dalakas M C, Leon-Monzon M, Isaacson S H, Nagle J W, Vasconcelos O, Goldfarb L G
Abstract excerpt
Accumulation of beta-amyloid protein (A beta) occurs in some muscle fibers of patients with inclusion body myopathy and resembles the type of amyloid deposits seen in the affected tissues of patients with Alzheimer's disease and cerebrovascular amyloidosis. Because mutations in exons 16 and 17 of the beta-amyloid precursor protein (beta APP) gene on chromosome 21 have been identified in patients with early-onset...
Topics
- Adult
- Amyloid beta-Protein Precursor
- Base Sequence
- Exons
- Female
- Humans
- Inclusion Bodies
- Molecular Sequence Data
- Muscular Diseases
- Mutation