TTN as a candidate gene for distal arthrogryposis type 10 pathogenesis.

ABSTRACT:

Background

Arthrogryposis is a medical term used to describe congenital contractures which often affect multiple limbs. Distal arthrogryposis (DA) is one of the major categories of arthrogryposis that primarily affects the distal parts of the body, i.e., the hands and the legs. Although ten different types and several subtypes of DAs have been described, the genes associated with each of these DAs are yet to be characterized. Distal arthrogryposis type 10 (DA10) is a rare genetic disease, which is distinguished from the other arthrogryposis types by plantar flexion contractures resulting in toe-walking during infancy as well as variability in contractures of the hip, hamstring, elbow, wrist and finger joints with no ocular or neurological abnormalities. Symptoms of DA10 indicate im

SUBMITTER: Biswas A 

PROVIDER: S-EPMC9372250 | biostudies-literature | 2022 Aug

REPOSITORIES: biostudies-literature