reducing body myopathy

Epidemiology

• rare

Pathology

• progressive muscular weakness
• characteristic intracytoplasmic inclusions in myofibers

Genetics

• X-linked recessive
• associated with defects in FHL1
• allelic forms of
  • severe early-onset reducing body myopathy
  • childhood-onset

Clinical manifestations

• progressive muscular weakness
• variable from early onset fatal to childhood onset to adult onset cases

More general terms

• genetic disease of muscle (inherited myopathy)
• X-linked disease

Database

• OMIM: https://mirror.omim.org/entry/300717
• OMIM: https://mirror.omim.org/entry/300718