| Monarch Ortholog Phenotypes
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Human (14 sources):
Centrally nucleated skeletal muscle fibers,
EMG: myopathic abnormalities,
Easy fatigability,
Elevated circulating creatine kinase concentration,
Fatigable weakness,
Fatiguable weakness of proximal limb muscles,
Increased variability in muscle fiber diameter,
Muscle fiber tubular inclusions,
Muscle spasm,
Muscle weakness,
[+]
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Mouse (8 sources):
abnormal circulating total protein level,
abnormal freezing behavior,
abnormal muscle electrophysiology,
abnormal sarcomere morphology,
abnormal sarcoplasmic reticulum morphology,
decreased grip strength,
impaired skeletal muscle contractility,
muscular atrophy
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View all ortholog results at Monarch
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Gene expression phenotype annotations where the gene of interest has been
disrupted (manipulated) or is the gene assayed (assayed). Computed annotations are derived from
differential expression analysis from Xenbase processed GEO data with the criteria of a TPM >= 1,
FDR <= 0.05 and an absolute LogFC >= 2.