Article
Localization of the giant axonal neuropathy gene to chromosome 16q24.
Annals of neurology - 1 Jan 1998
Flanigan K M, Crawford T O, Griffin J W, Goebel H H, Kohlschütter A, Ranells J, Camfield P R, Ptácek L J
Abstract excerpt
Giant axonal neuropathy (GAN) is a degenerative disorder of the peripheral nerves that is inherited as an autosomal recessive trait, presenting in early childhood and progressing to death, usually by late adolescence. Diagnosis is made by peripheral nerve biopsy, in which a striking pathological finding is seen--fibers distorted by giant axonal swellings filled with densely packed bundles of neurofilaments (the...
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