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GTR Home > Conditions/Phenotypes > Myopathy, centronuclear, 6, with fiber-type disproportion

Myopathy, centronuclear, 6, with fiber-type disproportion

Summary

Centronuclear myopathy-6 with fiber-type disproportion (CNM6) is an autosomal recessive, slowly progressive congenital myopathy with onset in infancy or early childhood. Patients may be hypotonic at birth, but all show delayed motor development and walking difficulties due to muscle weakness mainly affecting the proximal lower and upper limbs. Other features include scapular winging, scoliosis, and mildly decreased respiratory vital capacity. The phenotype and muscle biopsy abnormalities are variable, although centralized nuclei and fiber-type disproportion appear to be a common finding on muscle biopsy (summary by Vasli et al., 2017). For a discussion of genetic heterogeneity of centronuclear myopathy, see CNM1 (160150). [from OMIM]

Available tests

7 tests are in the database for this condition.

Clinical tests (7 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: AZK, CNM6, MLK7, MLT, MLTK, MLTKalpha, MLTKbeta, MRK, SFMMP, ZAK, mlklak, pk, MAP3K20
    Summary: mitogen-activated protein kinase kinase kinase 20

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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