nemaline myopathy 9 (Q32144851)
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nemaline myopathy characterized by onset in early infancy of muscle weakness with variable severity that has material basis in homozygous or compound heterozygous mutation in the KLHL41 gene on chromosome 2q31
- NEM9
- NEMALINE MYOPATHY 9
- Nemaline Myopathy type 9
- NEMALINE MYOPATHY 9; NEM9
Language | Label | Description | Also known as |
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English | nemaline myopathy 9 |
nemaline myopathy characterized by onset in early infancy of muscle weakness with variable severity that has material basis in homozygous or compound heterozygous mutation in the KLHL41 gene on chromosome 2q31 |
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