Title : Distal hereditary motor neuronopathy of the Jerash type is caused by a novel SIGMAR1 c.500A>T missense mutation.

Pub. Date : 2020 Mar

PMID : 31511340






1 Functional Relationships(s)
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1 CONCLUSION: In conclusion, the homozygous SIGMAR1 c.500A>T mutation causes dHMN of the Jerash type, possibly due to a significant drop of protein levels. dhmn sigma non-opioid intracellular receptor 1 Homo sapiens