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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 mutation	Chromosome rearrangement	Effect	Comments
missense		abnormal protein/loss of function	G59S mutation disrupting the folding of the CAP-Gly domain

Remark(s)