Disease & disorder
autosomal dominant nebulin-related myopathy
MONDO:1010152
Any myopathy in which an autosomal dominantly inherited genetic variation in the NEB gene causes disease via a dominant-negative mechanism. Symptoms reported in patients include distal muscle weakness, hypotonia, muscle fiber atrophy, foot drop, high arched palate, feeding difficulties, and type 1 fiber predominance.
Research intelligence
Directly mapped studies only · unique clinical trialsCurrent registry observations. Phase counts may overlap. Study start dates are not registry registration dates. Investigational interventions are not approved-treatment recommendations.
Medications under investigation
Verified disease and drug mappings that co-occur within the same study; not evidence of effectiveness.
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MONDO disease family
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Investigated drug interventions
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Drugs being studied
Disease identity and terminology: MONDO. Trial relationships: ClinicalTrials.gov.