Identification of a novel pathogenic mutation of the MYH3 gene in a family with distal arthrogryposis type 2B.

Abstract excerpt

Distal arthrogryposis (DA) type 2B (DA2B) is an autosomal dominant congenital disorder, characterized by camptodactyly, thumb adduction, ulnar deviation and facial features, including small mouth, down‑slanting palpebral fissure and slight nasolabial fold. It has been reported that four genes are associated with DA2B, including troponin I, fast‑twitch skeletal muscle isoform, troponin T3, fast skeletal, myosin...

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