Congenital Fiber-type Disproportion Myopathy

About the Disease
Congenital Fiber-Type Disproportion, also known as congenital myopathy with fiber type disproportion, is related to myopathy, congenital, with fiber-type disproportion and batten-turner congenital myopathy. An important gene associated with Congenital Fiber-Type Disproportion is ACTA1 (Actin Alpha 1, Skeletal Muscle), and among its related pathways/superpathways are Integrin Pathway and RNA Polymerase II Transcription Initiation And Promoter Clearance. Affiliated tissues include skeletal muscle, heart and eye, and related phenotypes are failure to thrive and sleep disturbance

Common Targets
TPM3 | RYR1 | ORAI1 | MAP3K20 | SCN4A | STIM1 | ITGA7 | TPM2 | MYH7

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