Activity
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5 actions
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| Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.148 | MYL2 | Bryony Thompson Marked gene: MYL2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.148 | MYL2 | Bryony Thompson Gene: myl2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.148 | MYL2 | Bryony Thompson Classified gene: MYL2 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.148 | MYL2 | Bryony Thompson Gene: myl2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.145 | MYL2 |
Sangavi Sivagnanasundram gene: MYL2 was added gene: MYL2 was added to Limb-Girdle Muscular Dystrophy and Distal Myopathy. Sources: Other Mode of inheritance for gene: MYL2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MYL2 were set to 23365102; 9673982 Phenotypes for gene: MYL2 were set to Myopathy, myofibrillar, 12, infantile-onset, with cardiomyopathy (MIM#619424) Review for gene: MYL2 was set to GREEN Added comment: Onset is in the first few weeks of life. Typical features include hypotrophy of skeletal and cardiac muscle PMID: 23365102; 9673982 13 affected individuals from 6 unrelated family with progressive muscle weakness and cardiomyopathy Sources: Other |
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