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GTR Home > Conditions/Phenotypes > Nemaline myopathy 6

Nemaline myopathy 6

Synonyms
Nemaline myopathy 6, autosomal dominant

Summary

Nemaline myopathy-6 is an autosomal dominant skeletal muscle disorder characterized by childhood onset of slowly progressive proximal muscle weakness, exercise intolerance, and slow movements with stiff muscles. Patients are unable to run or correct themselves from falling over. Histopathologic changes seen on skeletal muscle biopsy include nemaline rods, cores devoid of oxidative enzyme activity, and predominance of hypertrophic type 1 fibers. There is no cardiac or respiratory involvement (summary by Sambuughin et al., 2010). [from OMIM]

Available tests

36 tests are in the database for this condition.

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Clinical tests (35 available)

Molecular Genetics Tests

Research tests

Genes See tests for all associated and related genes

  • Also known as: HCG1645727, NEM6, KBTBD13
    Summary: kelch repeat and BTB domain containing 13

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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