Many myopathies are inherited in a recessive manner, but in some of these recessively
inherited disorders, clinical manifestations may potentially manifest in carriers of just a
The aim of the study is to describe the clinical characteristics of single mutation carriers
of recessive myopathy, through measuring serum creatine kinase, muscle strength, muscle
degeneration (by MRI) and heart affection. The investigators will do this by blood sampling,
Biodex 4 Isokinetic Dynamometer, MRI analysis, ECG, Holter monitoring, and echocardiography.
The aim is further to describe whether these characteristics are found primarily with