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GENATLAS PHENOTYPE
last update : 03-06-2014
Symbol LMND2
Location 1p36.31
Name lower motor neuron disease 2
Other name(s)
  • spinal muscular atrophy, distal, 4
  • distal hereditary motor neuropathy
    • Corresponding gene PLEKHG5
    Other symbol(s) DSMA4
    Main clinical features
  • childhood onset, with generalized muscle weakness and atrophy with denervation and normal sensation, outcome severe, with loss of walking and the need for permanent respiratory assistance before adulthood
    • Genetic determination autosomal recessive
    Function/system disorder neurology
    Type disease
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
    unknown   abnormal protein/loss of function homozygous mutation (c.1940 TC [p.647 PheSer]) caused protein instability, impaired the ability of PLEKHG5 to activate the NFB pathway
    Remark(s)