GTR Home > Conditions/Phenotypes > Minicore myopathy

Summary

Excerpted from the GeneReview: Multiminicore Disease
Multiminicore disease (MmD) is broadly classified into four groups: Classic form (75% of individuals). Moderate form, with hand involvement (<10%). Antenatal form, with arthrogryposis multiplex congenita (<10%). Ophthalmoplegic form (<10%). Onset of the classic form is usually congenital or early in childhood with neonatal hypotonia, delayed motor development, axial muscle weakness, scoliosis, and significant respiratory involvement (often with secondary cardiac impairment). Spinal rigidity of varying severity is present.

Available tests

39 tests are in the database for this condition.

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Genes See tests for all associated and related genes

  • Also known as: CCO, MHS, MHS1, PPP1R137, RYDR, RYR, RYR-1, SKRR, RYR1
    Summary: ryanodine receptor 1

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