Alanyl-tRNA synthetase mutation in a family with dominant distal hereditary motor neuropathy.
Shijiazhuang, China. In Neurology, 2012
in a family with distal hereditary motor neuropathy (dHMN), all 4 affected family members had a heterozygous missense mutation c.2677G>A (p.D893N) of (AARS), not found in the 4 unaffected members and control subjects; conclude AARS mutation caused dHMN in a Chinese family; AARS mutations result in not only a CMT phenotype but also a dHMN phenotype
Humoral immunity in polymyositis/dermatomyositis.
Oklahoma City, United States. In J Invest Dermatol, 1993
Sera with antibodies to alanyl-tRNA synthetase (anti-PL-12) also have antibodies to tRNA(ala), whereas most sera with other anti-synthetases do not react directly with tRNA.