
Investigation of the role of SMN1 and SMN2 haploinsufficiency as a risk factor for Hirayama's disease: Clinical, neurophysiological and genetic characteristics in a Spanish series of 13 patients
Keywords: SMN1; SMN2; Haploinsufficiency; Hirayama's disease; Monomelic amyotrophy; OMIM 602440; Susceptibility/modifying factor; Motor neuron disease