Myosin storage myopathy: Slow skeletal myosin (MYH7) mutation in two isolated cases
2005
Myosin storage myopathy is a congenital myopathy characterized by subsarcolemmal hyaline bodies in type 1 muscle fibers, which are ATPase positive and thus contain myosin. Mutations recently were identified in the type 1 muscle fiber myosin gene ( MYH7 ) in Swedish and Saudi families with myosin storage myopathy. The authors have identified the arginine 1845 tryptophan mutation found in the Swedish families in two isolated Belgian cases, indicating a critical role for myosin residue arginine 1845.
Keywords:
- Correction
- Source
- Cite
- Save
- Machine Reading By IdeaReader
8
References
45
Citations
NaN
KQI