nemaline myopathy 7 (Q32144919)
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nemaline myopathy characterized by very early onset of hypotonia and delayed motor development that has material basis in homozygous mutation in the CFL2 gene on chromosome 14q13
- NEM7
- nemaline myopathy 7, autosomal recessive
- Nemaline Myopathy type 7
- NEMALINE MYOPATHY 7; NEM7
- NEMALINE MYOPATHY 7
Language | Label | Description | Also known as |
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English | nemaline myopathy 7 |
nemaline myopathy characterized by very early onset of hypotonia and delayed motor development that has material basis in homozygous mutation in the CFL2 gene on chromosome 14q13 |
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