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Article

A very rare cause of arthrogryposis multiplex congenita: a novel mutation in TOR1A.

Journal of pediatric endocrinology & metabolism : JPEM - 27 Jun 2022

Sarıkaya Emre, Özçelik Fırat, Gül Şiraz Ülkü, Hatipoglu Nihal, Güneş Tamer, Dündar Munis

Abstract excerpt

OBJECTIVES: Arthrogryposis multiplex congenita-5 (AMC5) is an autosomal recessive disease caused by homozygous or compound heterozygous mutations in the TOR1A gene on chromosome 9q34. Congenital multiple joint contractures with microcephaly, typical facial dysmorphism, developmental delay, strabismus, tremor, and increased tone are the main characteristics defined in seven patients thus far. One third of the...

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Identifiers

PMID: 35303767
DOI: 10.1515/jpem-2021-0766

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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