arthrogryposis, distal, type 2B

An inherited condition (OMIM:601680) characterised by multiple congenital contractures, vertical talus, ulnar deviation of hands, severe camptodactyly and distinctive facies: triangular shape, prominent nasolabial folds, small mouth and prominent chin.
Molecular pathology
Caused by defects of:
• MYH3, which encodes a heavy-chain myosin involved in cytokinesis, cell shape and specialised functions;
• TNNI2, which encodes troponin I type 2, a protein expressed in muscle and cartilage;
• TNNT3, which encodes type-3 troponin T, the tropomyosin-binding subunit of troponin; and
• TPM2, which encodes beta-tropomyosin, an actin filament binding protein primarily expressed in slow, type 1 muscle fibres.

单词	arthrogryposis, distal, type 2b
释义	DictionarySeearthrogryposisSee Arthrogryposis See Arthrogryposis arthrogryposis, distal, type 2B arthrogryposis, distal, type 2B An inherited condition (OMIM:601680) characterised by multiple congenital contractures, vertical talus, ulnar deviation of hands, severe camptodactyly and distinctive facies: triangular shape, prominent nasolabial folds, small mouth and prominent chin. Molecular pathology Caused by defects of: • MYH3, which encodes a heavy-chain myosin involved in cytokinesis, cell shape and specialised functions; • TNNI2, which encodes troponin I type 2, a protein expressed in muscle and cartilage; • TNNT3, which encodes type-3 troponin T, the tropomyosin-binding subunit of troponin; and • TPM2, which encodes beta-tropomyosin, an actin filament binding protein primarily expressed in slow, type 1 muscle fibres.
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