Gene table: search width pubmed_id = 10508519


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Disease phenotype
Item
in
this
table
Key
references
Gene symbol (chromosome)

protein
All allelic disease phenotypes - locus/disease symbols
Congenital myopathy 2C, severe infantile, dominant - (AD)
3.3
10508519
9185179
ACTA1 (1q42.1)
Alpha actin, skeletal muscle
* myopathy, congenital, with fiber-type disproportion - CFTD
* Congenital myopathy 2A, typical - CMYP2A
* Congenital myopathy 2B, severe infantile - CMYP2B
* Left ventricular noncompaction 4 - LVNC4
* Congenital myopathy 2C, severe infantile, dominant - CMYP2C
* Nemaline myopathy 3 - NEM3