| Location | Phenotype |
Phenotype MIM number |
Inheritance |
Phenotype mapping key |
|---|---|---|---|---|
| 9p13.3 | Nonaka myopathy | 605820 | AR | 3 |
| Sialuria | 269921 | AD | 3 | |
| Thrombocytopenia 12 with or without myopathy | 620757 | AR | 3 |
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| Location | Phenotype |
Phenotype MIM number |
Inheritance |
Phenotype mapping key |
Gene/Locus |
Gene/Locus MIM number |
|---|---|---|---|---|---|---|
| 9p13.3 | Nonaka myopathy | 605820 | AR | 3 | GNE | 603824 |
| Location | Phenotype | Inheritance |
Phenotype mapping key |
Phenotype MIM number |
Gene/Locus |
Gene/Locus MIM number |
|---|---|---|---|---|---|---|
| 1q43 | Myopathy, distal, 6, adult onset | AD | 3 | 618655 | ACTN2 | 102573 |
| 2p13.3 | Welander distal myopathy | AD, AR | 3 | 604454 | TIA1 | 603518 |
| 2p13.2 | Myopathy, distal, with anterior tibial onset | AR | 3 | 606768 | DYSF | 603009 |
| 3p25.3 | Myopathy, distal, Tateyama type | AD | 3 | 614321 | CAV3 | 601253 |
| 7q32.1 | Myopathy, distal, 4 | AD | 3 | 614065 | FLNC | 102565 |
| 9p13.3 | Nonaka myopathy | AR | 3 | 605820 | GNE | 603824 |
| 12q13.13 | ?Myopathy, distal, 3 | AD | 3 | 610099 | HNRNPA1 | 164017 |
| 14q11.2 | Laing distal myopathy | AD | 3 | 160500 | MYH7 | 160760 |
| 14q32.33 | Myopathy, distal, 5 | AR | 3 | 617030 | ADSS1 | 612498 |
| Xp22.12 | Myopathy, distal, 7, adult-onset, X-linked | XLR | 3 | 301075 | SMPX | 300226 |
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