congenital myopathy with fiber-type disproportion

Pathology

• relative hypotrophy of type 1 muscle fibers compared to type 2 muscle fibers on skeletal muscle biopsy (not specific)

Genetics

• genetically heterogeneous
• associated with defects in ACTA1

More general terms

• genetic disease of muscle (inherited myopathy)
• congenital anomaly (birth defect)

Database

• OMIM: https://mirror.omim.org/entry/255310