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Myopathy, congenital, progressive, with scoliosis

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Description

Progressive congenital myopathy with scoliosis (MYOSCO) is an autosomal recessive skeletal muscle disorder characterized by infantile-onset of progressive muscle weakness and atrophy associated with scoliosis, variably impaired walking, and dysmorphic facial features (Feichtinger et al., 2019).

OMIM

  • Mode of Inheritance

  • Autosomal recessive inheritance

VARIANTS

7

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Genes

External Links

  • OMIM

    618578

  • Orphanet
  • HPO
  • Medgen

    C5231417

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