myotubular myopathy (centronuclear myopathy)

Pathology

• the most prominent histopathologic features include:
  • high frequency of centrally located nuclei in muscle fibers not secondary to regeneration
  • radial arrangement of sarcoplasmic strands around the central nuclei
  • predominance & hypotrophy of type-1 muscle fibers

Genetics

• autosomal form associated with defects in DNM2
• autosomal form associated with defects in MYF6
• X-linked form associated with defects in MTM1 (type-1)
• autosomal recessive for associated with defects in BIN1 Clinical maniifestations:
• congenital muscle disorder
• progressive muscular weakness & wasting involving mainly limb girdle, trunk, & neck muscles
• may also affect distal muscles
• weakness may be present during childhood or adolescence or may not become evident until the third decade of life
• ptosis is a frequent clinical feature
• may have elongated face, high-arched palate, scoliosis

More general terms

• genetic disease of muscle (inherited myopathy)

Database

• OMIM: https://mirror.omim.org/entry/160150
• OMIM: https://mirror.omim.org/entry/310400
• OMIM: https://mirror.omim.org/entry/255200