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GENATLAS PHENOTYPE

last update : 27-08-2009

Symbol	CFTD1
Location	1q42.13
Name	congenital fibre type disproportion 1
Corresponding gene	ACTA1
Main clinical features	severe congenital weakness and respiratory failure without ophthalmoplegia, congenital hypotonia, and failure to thrive, with hypotrophy of type 1 muscle fibers compared to type 2 fibers on skeletal muscle biopsy
Genetic determination	autosomal recessive
	autosomal dominant
Function/system disorder	neuromuscular
Type	disease

Remark(s)

mutations cause weakness by disrupting sarcomere function rather than structure (Clarke 2007)