A TNNI2 variant c.525G>T causes distal arthrogryposis in a Chinese family
Sign Up to like & getrecommendations! Published in 2022 at "Molecular Genetics & Genomic Medicine"
DOI: 10.1002/mgg3.2042
Abstract: Distal arthrogryposis (DA) is a group of congenital autosomal‐dominant disorders secondary to defects in joint and muscle function, characterized by multiple joint contractures of the hands and feet. DA can be divided into 10 types… read more here.
Keywords: tnni2 variant; variant 525g; causes distal; distal arthrogryposis ... See more keywords
A recurrent GARS mutation causes distal hereditary motor neuropathy
Sign Up to like & getrecommendations! Published in 2019 at "Journal of the Peripheral Nervous System"
DOI: 10.1111/jns.12353
Abstract: We found a p.Gly327Arg mutation in GARS in two unrelated women, both of whom had a similar phenotype ‐ motor weakness that began in late childhood, distal weakness in the arms and legs, a motor… read more here.
Keywords: causes distal; motor; gars mutation; mutation causes ... See more keywords