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Late-onset spinal motor neuronopathy

From SNPedia

Late-onset spinal motor neuronopathy, LOSMoN, is an adult-onset autosomal dominant lower motor neuron disorder identified first in Finland. LOSMoN is primarily caused by the c.197G>T p.G66V mutation in the gene CHCHD10, represented by rs730880031. The clinical phenotype of LOSMoN is clarified in a doctoral thesis published in December 2015, "Late-onset spinal motor neuronopathy- a new neuromuscular disease".


[PMID 26059445] Spontaneous activity in electromyography may differentiate certain benign lower motor neuron disease forms from amyotrophic lateral sclerosis.

[PMID 25428574] Late onset spinal motor neuronopathy is caused by mutation in CHCHD10

[PMID 24360573] Late-onset spinal motor neuronopathy - a common form of dominant SMA.

[PMID 22535186OA-icon.png] Autosomal dominant late-onset spinal motor neuronopathy is linked to a new locus on chromosome 22q11.2-q13.2.

[PMID 21715705] Late-onset lower motor neuronopathy: a new autosomal dominant disorder.