We found a match
Your institution may have access to this item. Find your institution then sign in to continue.
- Title
CMT4A: Identification of a Hispanic GDAP1 founder mutation.
- Authors
Cornelius F. Boerkoel; Hiroshi Takashima; Masanori Nakagawa; Shuji Izumo; Dawna Armstrong; Ian Butler; Pedro Mancias; Sozos C. H. Papasozomenos; Lawrence Z. Stern
- Abstract
Mutations of the ganglioside-induced differentiation-associated protein 1 gene (GDAP1) cause autosomal recessive CharcotMarieTooth disease type 4A. We report four additional families with recessive mutations (487C→T, Q163X; 359G→A, R120Q) of GDAP1; Q163X occurred in three unrelated Hispanic families that had the same haplotype suggesting a Spanish founder mutation. Both the Q163X and the R120Q mutation cause demyelination and axonal loss. The patients had symptoms within the first two years of life and involvement of cranial, sensory, and enteric nerves. Neuropathology showed loss of large myelinated fibers, onion bulb formations and focal folding of the outer myelin lamina. Ann Neurol 2003;53:400405
- Publication
Annals of Neurology, 2003, Vol 53, Issue 3, p400
- ISSN
0364-5134
- Publication type
Article