POMT1-related limb-girdle muscular dystrophy R11

What is POMT1-related limb-girdle muscular dystrophy R11?

A form of limb-girdle muscular dystrophy characterized by the onset of slowly progressive proximal muscle weakness during childhood (with fatigue and difficulty running and climbing stairs) and developmental delay. Mild intellectual deficit and microcephaly, without any obvious structural brain abnormality, are found in all patients. Mild pseudohypertrophy and joint contractures of the ankles have also been reported.

Other condition names

  • Autosomal recessive limb-girdle muscular dystrophy type 2K
  • LGMD type 2K
  • LGMD2K
  • Limb-girdle muscular dystrophy type 2K
  • Limb-girdle muscular dystrophy-intellectual disability syndrome
  • POMT1-related LGMD R11

Inheritance type

Autosomal recessive

Age of Onset

  • Childhood
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