scapuloperoneal myopathy (scapuloperoneal syndrome myopathic type)

Genetics

• associated with defects in MYH7
• X-linked dominant form associated with defects in FHL1

Clinical manifestations

• progressive myopathy beginning in the lower legs & affecting the shoulder region earlier & more severely than distal arm

More general terms

• genetic disease of muscle (inherited myopathy)

Database

• OMIM: https://mirror.omim.org/entry/181430
• OMIM: https://mirror.omim.org/entry/300695