JMG Online mutation reports

RYR1 mutations in UK central core disease patients: more than just the C-terminal transmembrane region of the RYR1 gene
S Shepherd, F Ellis, J Halsall, P Hopkins, R Robinson

Journal of Medical Genetics Mar 2004, 41 (3) e33; DOI: 10.1136/jmg.2003.014274
A founder MLH1 mutation in families from the districts of Modena and Reggio-Emilia in northern Italy with hereditary non-polyposis colorectal cancer associated with protein elongation and instability
O Caluseriu, C Di Gregorio, E Lucci-Cordisco, M Santarosa, J Trojan, A Brieger, P Benatti, M Pedroni, T Colibazzi, A Bellacosa, G Neri, M Ponz de Leon, A Viel, M Genuardi

Journal of Medical Genetics Mar 2004, 41 (3) e34; DOI: 10.1136/jmg.2003.013714
Novel mutations in the KCNQ2 gene link epilepsy to a dysfunction of the KCNQ2-calmodulin interaction
M C Richards, S E Heron, H E Spendlove, I E Scheffer, B Grinton, S F Berkovic, J C Mulley, A Davy

Journal of Medical Genetics Mar 2004, 41 (3) e35; DOI: 10.1136/jmg.2003.013938
A nonsense mutation in the first transmembrane domain of connexin 43 underlies autosomal recessive oculodentodigital syndrome
R J Richardson, S Joss, S Tomkin, M Ahmed, E Sheridan, M J Dixon

Journal of Medical Genetics Jul 2006, 43 (7) e37; DOI: 10.1136/jmg.2005.037655
The 13042G→A/ND5 mutation in mtDNA is pathogenic and can be associated also with a prevalent ocular phenotype
M L Valentino, P Barboni, C Rengo, A Achilli, A Torroni, R Lodi, C Tonon, B Barbiroli, F Fortuna, P Montagna, A Baruzzi, V Carelli

Journal of Medical Genetics Jul 2006, 43 (7) e38; DOI: 10.1136/jmg.2005.037507
Germline mutations in the von Hippel-Lindau (VHL) gene in patients from Poland: disease presentation in patients with deletions of the entire VHL gene
C Cybulski, K Krzystolik, A Murgia, B Górski, T Dębniak, A Jakubowska, M Martella, G Kurzawski, M Prost, I Kojder, J Limon, P Nowacki, L Sagan, B Białas, J Kałuża, M Zdunek, A Omulecka, D Jaskólski, E Kostyk, B Koraszewska-Matuszewska, O Haus, H Janiszewska, K Pecold, M Starzycka, R Słomski, M Ćwirko, A Sikorski, B Gliniewicz, L Cyryłowski, Ł Fiszer-Maliszewska, J Gronwald, A Tołoczko-Grabarek, S Zajączek, J Lubiński

Journal of Medical Genetics Jul 2002, 39 (7) e38; DOI: 10.1136/jmg.39.7.e38
Identification of 13 new mutations in the ACVRL1 gene in a group of 52 unselected Italian patients affected by hereditary haemorrhagic telangiectasia
C Olivieri, E Mira, G Delù, F Pagella, A Zambelli, L Malvezzi, E Buscarini, C Danesino

Journal of Medical Genetics Jul 2002, 39 (7) e39; DOI: 10.1136/jmg.39.7.e39
First occurrence of aprosencephaly/atelencephaly and holoprosencephaly in a family with a SIX3 gene mutation and phenotype/genotype correlation in our series of SIX3 mutations
L Pasquier, C Dubourg, M Gonzales, L Lazaro, V David, S Odent, F Encha-Razavi

Journal of Medical Genetics Jan 2005, 42 (1) e4; DOI: 10.1136/jmg.2004.023416
Alkaptonuria in the Dominican Republic: identification of the founder AKU mutation and further evidence of mutation hot spots in the HGO gene
E Goicoechea de Jorge, I Lorda, M E Gallardo, B Pérez, C Peréz de Ferrán, H Mendoza, S Rodríguez de Córdoba

Journal of Medical Genetics Jul 2002, 39 (7) e40; DOI: 10.1136/jmg.39.7.e40
Spastin gene mutation in Japanese with hereditary spastic paraplegia
I Yabe, H Sasaki, K Tashiro, T Matsuura, T Takegami, T Satoh

Journal of Medical Genetics Aug 2002, 39 (8) e46; DOI: 10.1136/jmg.39.8.e46

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