centronuclear myopathy 1 (Q66084919)
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An autosomal dominant centronuclear myopathy characterized by slowly progressive muscle wasting and weakness involving mainly the limb girdle, trunk, and neck muscles that has material basis in heterozygous mutation in DNM2 on 19p13.2.
- CNM1
| Language | Label | Description | Also known as |
|---|---|---|---|
| English | centronuclear myopathy 1 |
An autosomal dominant centronuclear myopathy characterized by slowly progressive muscle wasting and weakness involving mainly the limb girdle, trunk, and neck muscles that has material basis in heterozygous mutation in DNM2 on 19p13.2. |
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Statements
1 reference
Identifiers
1 reference
1 reference