(last modified February 4, 2011)
Gene |
Gene symbol | Disease | Technique | ||
|---|---|---|---|---|---|
| DNA | RNA | protein | |||
| calpain-3 | CAPN3 | LGMD2A | SSCA, DHPLC | RT-PCR | |
| caveolin | CAV3 | LGMD1B | SEQ | RT-PCR | |
| dysferlin | DYSF | MM, LGMD-2B | SSCA | RT-PCR | |
| dystrophin | DMD | DMD / BMD / XLDCM |
overview (mPCR, Q-mPCR, MAPH, MLPA, CSCE, DGGE, DHPLC, Southern) |
several | several |
| emerin | EMD | EMD | SEQ | RT-PCR | |
| fukutin-related protein | FKRP | LGMD-2I | SEQ | RT-PCR | |
| Glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase | GNE | DMRV, IBM-2, sialuria | SEQ | RT-PCR | several |
| lamin A/C | LMNA | DHPLC, SEQ, SSCA | |||
| laminin-alpha 2 | LAMA2 | MDC-1A | SSCA | RT-PCR+SSCA, PTT |
|
| myostatin | MSTN | MH | SEQ | ||
| myotilin | TTID | LGMD-1A | DHPLC | ||
| sarcoglycan-alpha | SGCA | LGMD-2D | DHPLC, DGGE | RT-PCR | |
| sarcoglycan-beta | SGCB | LGMD-2E | DHPLC, SSCA | RT-PCR | |
| sarcoglycan-gamma | SGCG | LGMD-2C | DHPLC | ||
| sarcoglycan-delta | SGCD | LGMD-2F | DHPLC | ||
| sarcoglycan-epsilon | SGCE | DHPLC, SSCA, SEQ | RT-PCR | ||
| sarcoglycan-zeta | SGCZ | ||||
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