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GENATLAS PHENOTYPE
last update : 18/07/2006
Symbol LMND
Location 2p13.1
Name lower motor neuron disease, dynactin type
Corresponding gene DCTN1
Other symbol(s) PLMND
Main clinical features slowly progressive, without sensory symptoms
Genetic determination autosomal dominant
Function/system disorder neurology
Type disease
Mechanism(s)
Gene mutationChromosome rearrangementEffectComments
missense   abnormal protein/loss of function G59S mutation disrupting the folding of the CAP-Gly domain
Remark(s)