Article
Novel homozygous missense mutation in GAN associated with Charcot-Marie-Tooth disease type 2 in a large consanguineous family from Israel.
BMC medical genetics - 16 Nov 2016
Aharoni Sharon, Barwick Katy E S, Straussberg Rachel, Harlalka Gaurav V, Nevo Yoram, Chioza Barry A, McEntagart Meriel M, Mimouni-Bloch Aviva, Weedon Michael, Crosby Andrew H
Abstract excerpt
BACKGROUND: CMT-2 is a clinically and genetically heterogeneous group of peripheral axonal neuropathies characterized by slowly progressive weakness and atrophy of distal limb muscles resulting from length-dependent motor and sensory neurodegeneration. Classical giant axonal neuropathy (GAN) is an autosomal recessively inherited progressive neurodegenerative disorder of the peripheral and central nervous systems,...
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