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Limb-girdle muscular dystrophy due to POMK deficiency

Disease definition

Limb-girdle muscular dystrophy due to POMK deficiency is a form of limb-girdle muscular dystrophy presenting in infancy with muscle weakness and delayed motor development (eventually learning to walk at 18 months of age) followed by progressive proximal weakness, pseudohypertrophy of calf muscles, mild facial weakness, and borderline intelligence.

ORPHA:445110

Classification level: Disorder
  • Synonym(s):
    • LGMD due to POMK deficiency
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal recessive 
  • Age of onset: Infancy
  • ICD-10: G71.0
  • OMIM: 616094
  • UMLS: -
  • MeSH: -
  • GARD: -
  • MedDRA: -

Detailed information

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