X-linked adrenomyeloneuropathy due to a novel missense mutation in the ABCD1 start codon presenting as demyelinating neuropathy.
作者信息
Engelen Marc, van der Kooi Anneke J, Kemp Stephan, Wanders Ronald J A, Sistermans Erik A, Waterham Hans R, Koelman Johannes T M, van Geel Björn M, de Visser Marianne
出版信息
J Peripher Nerv Syst. 2011 Dec;16(4):353-5. doi: 10.1111/j.1529-8027.2011.00367.x.