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GENATLAS PHENOTYPE

last update : 07-02-2009

Symbol	AMCD1
Location	9p13.3
Name	arthrogryposis multiplex congenita, distal, type IA
Other name(s)	arthrogryposis, distal type 1
Corresponding gene	TPM2
Other symbol(s)	AGMD1, DA1A
Main clinical features	involvement primarily of the distal part of the limbs (especially hands and feet), a characteristic position of the hands (medially overlapping fingers, clenched fists, ulnar deviation of fingers, and camptodactyly) positional foot deformities, and relatively good response to physical therapy; contractures at other joints variable, no associated visceral anomalies, intelligence normal
Genetic determination	autosomal dominant
Function/system disorder	neurology
	osteo-articular
Type	disease

Gene product

Name	tropomyosin 2 (beta)

Remark(s)

mutations cause increased contractility of developing fast-twitch skeletal muscles, thus causing muscle contractures and the development of the observed limb deformities (Robinson 2007)