Unfortunately there were a couple of mistakes in the recently published list.
The changes are:
We have the sad duty to inform you, that Prof. Dr. Dr. hc Dipl Ing Frank Lehmann-Horn has passed away on May 8th 2018. His colleagues have written an obituary.
Preliminary information on the 2019 annual meeting has been added.
The following diagnostic mutations have been added to the list
| Exon | Nucleotide | Aminoacid |
|---|---|---|
| 2 | c.130C>T | p.Arg44Cys |
| 11 | c.982C>T | p.Arg328Trp |
| 11 | c.1021G>C | p.Gly341Arg |
| 15 | c.1597C>T | p.Arg533Cys |
| 15 | c.1598G>A | p.Arg533His |
| 47 | c.7522C>A | p.Arg2508Gly |
The detailed program of the EMHG annual meeting is now online!
The good news is that we have a lot of registrations for the 2018 annual meeting in Ferrara. The bad news is that therefore registration had to be closed by the end of March.
The deadline for abstract submission has been extended until March 31st 2018.
So go ahead, write your abstract and submit it! For details visit this page.
Please find attached the 2018 newsletter of the EMHG. And remember, that registration for the annual meeting is open (and reduced fees are available until February 28th).
The information for the 2018 annual meeting is online.
Please note that you should book your accommodation as soon as possible and that registration fees are reduced until February 28th 2018.
Welcome to the new website of the EMHG. Have fun exploring the new look and functionality.
Currently the 'genetic browser' (searching RYR1) is not available. This will be made available in a future update.
You are free to comment on the new website.
The EMHG is pleased to announce a new possibility for smaller research grants.
Applications are invited for EMHG Young Investigator Research Grants which are intended for researchers seeking smaller amounts of money to undertake projects of relatively modest size.
The list of diagnostic mutations has just been expanded and now totals to 42. Those just added are:
| # | Exon | Nucleotide | Aminoacid |
|---|---|---|---|
| 7 | 12 | c.1201C>T | p.401Arg>Cys |
| 20 | 44 | c.7042_7044del | p.2348Gln>del |
| 22 | 44 | c.7063C>T | p.2355Arg>Trp |
| 34 | 63 | c.9310G>A | p.3104Glu>Lys |
| 35 | 84 | c.11969G>T | p.3990Gly>Val |
| 40 | 101 | c.14545G>A | p.4849Val>Ile |
