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Symbol Name ID |
Dysf
dysferlin MGI:1349385 |
| Darker colors indicate more annotations |
| Human Phenotypes | Calf muscle hypertrophy |
Tibialis muscle weakness |
Intrinsic hand muscle atrophy |
Finger flexor weakness |
Weakness of the intrinsic hand muscles |
Scapular winging |
Proximal muscle weakness in upper limbs |
Lower limb muscle weakness |
Proximal muscle weakness in lower limbs |
Limb-girdle muscular dystrophy |
Limb-girdle muscle weakness |
Distal upper limb muscle weakness |
Muscular edema |
EMG: myopathic abnormalities |
Difficulty climbing stairs |
Difficulty running |
Muscle weakness |
Distal muscle weakness |
Neck flexor weakness |
Progressive proximal muscle weakness |
Proximal muscle weakness |
Myotonia |
Absent muscle fiber dysferlin |
Increased variability in muscle fiber diameter |
Central core regions in muscle fibers |
Deposits immunoreactive to beta-amyloid protein |
Muscle fiber splitting |
Skeletal muscle atrophy |
Distal amyotrophy |
Muscular dystrophy |
Myopathy |
| Disease(s) Associated with DYSF | |||||||||||||||||||||||||||||||
| autosomal recessive limb-girdle muscular dystrophy type 2B | |||||||||||||||||||||||||||||||
| distal myopathy with anterior tibial onset | |||||||||||||||||||||||||||||||
| Miyoshi muscular dystrophy 1 | |||||||||||||||||||||||||||||||
| muscular dystrophy |
| Mouse Phenotypes | skeletal muscle necrosis |
skeletal muscle fiber necrosis |
myositis |
abnormal sarcolemma morphology |
abnormal skeletal muscle fiber morphology |
increased skeletal muscle fiber size |
increased variability of skeletal muscle fiber size |
centrally nucleated skeletal muscle fibers |
skeletal muscle fiber degeneration |
abnormal skeletal muscle morphology |
skeletal muscle fibrosis |
skeletal muscle endomysial fibrosis |
dystrophic muscle |
abnormal muscle physiology |
impaired skeletal muscle regeneration |
progressive muscle weakness |
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| Availability | Mouse Genotype | ||||||||||||||||
| Dysfim/Dysfim | |||||||||||||||||
| Dysfprmd/Dysfprmd | |||||||||||||||||
| Dysftm1.1Mdcb/Dysftm1.1Mdcb | |||||||||||||||||
| Dysftm1Kcam/Dysftm1Kcam | |||||||||||||||||
| Dysftm1Meho/Dysftm1Meho | |||||||||||||||||
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO) |
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last database update 04/30/2024 MGI 6.23 |
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