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The  PLEKHG5  gene encodes a protein that activates the nuclear factor kappa B (NFκB) signaling pathway. Mutations in this gene have been associated with distal spinal muscular atrophy IV and intermediate axonal neuropathy C, both with an autosomal recessive mode of inheritance. Two families with low motor neuron disease (LMND) caused by mutations in  PLEKHG5  have been reported to date. We present a third LMND family, the first nonconsanguineous, due to two not previously reported  PLEKHG5  mutations. Our results confirm and extend previous findings linking  PLEKHG5  mutations to lower motor neuron diseases.

Novel PLEKHG5 mutations in a patient with childhood‐onset lower motor neuron disease