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GENATLAS PHENOTYPE

last update : 15-06-2011

Symbol	CFTD3
Location	1q21.3
Name	congenital fibre type disproportion 3
Other name(s)	congenital myopathy in which relative hypotrophy of type 1 (slow twitch) muscle fibers is the principal abnormality on histology congenital hypotonia, generalized weakness, and failure to thrive, long, thin face, respiratory failure in early teens requiring non-invasive ventilation despite being ambulant, ptosis, axial more than proximal weakness and scoliosis
Corresponding gene	TPM3
Genetic determination	autosomal dominant
Function/system disorder	neuromuscular
Type	disease

Remark(s)