Article
T118M PMP22 mutation causes partial loss of function and HNPP-like neuropathy.
Annals of neurology - 1 Feb 2006
Shy Michael E, Scavina Mena T, Clark Alisa, Krajewski Karen M, Li Jun, Kamholz John, Kolodny Edwin, Szigeti Kinga, Fischer Richard A, Saifi Gulam Mustafa, Scherer Steven S, Lupski James R
Abstract excerpt
OBJECTIVE: To determine the clinical consequences of the PMP22 point mutation, T118M, which has been previously considered to either cause an autosomal recessive form of Charcot-Marie-Tooth (CMT) disease or be a benign polymorphism. METHODS: We analyzed patients from five separate kindreds and characterized their peripheral nerve function by clinical and electrophysiological methods. RESULTS: All heterozygous...
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