Nemaline myopathy
From SNPedia
Nemaline myopathy is an inherited neuromuscular disorder that causes muscle weakness, generally nonprogressive, of varying severity, and of varying age of onset. People with nemaline myopathy (or NM) usually experience delayed motor development and weakness in the arm, leg, trunk, throat, and face muscles.Wikipedia
Nemaline myopathy can be inherited in either a dominant or recessive manner, caused by mutations in at least six different genes:
- ACTA1, autosomal, recessive or de novo, with wide variety in presentation; NEM3
- NEB, recessive inheritance, congenital NEM2
- rs80358246, a 2500+ bp deletion found in about 1 in 100 Ashkenazi Jews
- TPM3, dominant inheritance, causing childhood-onset nemaline myopathy (Nemaline Myopathy 1; NEM1)
- TPM2, dominant inheritance, NEM4
- TNNT1, recessive inheritance, Amish form, NEM5
- CFL2, recessive inheritance, NEM7
