arthrogryposis, distal, type 1A

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arthrogryposis, distal, type 1A

A form of distal arthrogryposis (OMIM:108120) characterised by congenital joint contractures primarily involving the distal extremities, in absence of a primary neurologic or muscle disease; camptodactyly, clubfoot, hypoplasia and/or absence of some interphalangeal creases is common. The shoulders and hips are less frequently affected.

Molecular pathology
Caused by defects of TPM2, which encodes beta-tropomyosin, an actin filament-binding protein that binds to actin filaments in muscle and plays a central role in regulating striated muscle contraction.
References in periodicals archive ?
1]) e 25, 92 [degrees]C; 26,12 [degrees]C apos a aplicacao do tratamento, aos 3 DA1A e 21 DA3A, respectivamente, ocorrendo o inverso para EUA ([micro]mol C[O.
AxB-Teste F 0,95 ns 2,58 ** 19,47 ** CV (%) 28,66 22,43 2,36 Dias antes e apos a aplicacao dos tratamentos (DAA) 15 DA1A 3 DA1A 21 DA3A EUA 2,51 ab 2,74 a 2,39 b TF 30,88 a 30,00 b 30,90 a E (mmol de vapor d'agua [m.