DHMNDistal Hereditary Motor Neuronopathy
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References in periodicals archive ?
SS and dHMN are two motor neuropathies that affect distal limb muscles.
BSCL: Berardinelli-Seip congenital lipodystrophy; dHMN: distal hereditary motor neuropathies; SS: Silver syndrome.
In summary, we postulate that the novel heterozygous p.L272R variant on the GARS gene described here is the cause of dHMN type V in this family of Nigerian descent.