Review:

Inherited mitochondrial optic neuropathies

P Yu-Wai-Man, P G Griffiths, G Hudson, and P F Chinnery

J Med Genet 2009; 46: 145-158.
Published Online First: 10 November 2008. doi:10.1136/jmg.2007.054270

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Original articles:

The protective effect of farm animal exposure on childhood allergy is modified by NPSR1 polymorphisms

S Bruce, F Nyberg, E Melén, A James, V Pulkkinen, C Orsmark-Pietras, A Bergström, B Dahlén, M Wickman, E von Mutius, G Doekes, R Lauener, J Riedler, W Eder, M van Hage, G Pershagen, A Scheynius, and J Kere

J Med Genet 2009; 46: 159-167.
Published Online First: 19 February 2008. doi:10.1136/jmg.2007.055137

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20p12.3 microdeletion predisposes to Wolff–Parkinson–White syndrome with variable neurocognitive deficits

S R Lalani, J V Thakuria, G F Cox, X Wang, W Bi, M S Bray, C Shaw, S W Cheung, A C Chinault, B A Boggs, Z Ou, E K Brundage, J R Lupski, J Gentile, S Waisbren, A Pursley, L Ma, M Khajavi, G Zapata, R Friedman, J J Kim, J A Towbin, P Stankiewicz, S Schnittger, I Hansmann, T Ai, S Sood, X H Wehrens, J F Martin, J W Belmont, and L Potocki

J Med Genet 2009; 46: 168-175.
Published Online First: 23 September 2008. doi:10.1136/jmg.2008.061002

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Letters to JMG:

Disruption of contactin 4 in three subjects with autism spectrum disorder

J Roohi, C Montagna, D H Tegay, L E Palmer, C DeVincent, J C Pomeroy, S L Christian, N Nowak, and E Hatchwell

J Med Genet 2009; 46: 176-182.
Published Online First: 18 March 2008. doi:10.1136/jmg.2008.057505

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Spectrum of SCN1A gene mutations associated with Dravet syndrome: analysis of 333 patients

C Depienne, O Trouillard, C Saint-Martin, I Gourfinkel-An, D Bouteiller, W Carpentier, B Keren, B Abert, A Gautier, S Baulac, A Arzimanoglou, C Cazeneuve, R Nabbout, and E LeGuern

J Med Genet 2009; 46: 183-191.
Published Online First: 17 October 2008. doi:10.1136/jmg.2008.062323

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Epigenetic mutations of the imprinted IGF2-H19 domain in Silver–Russell syndrome (SRS): results from a large cohort of patients with SRS and SRS-like phenotypes

D Bartholdi, M Krajewska-Walasek, K Õunap, H Gaspar, K H Chrzanowska, H Ilyana, H Kayserili, I W Lurie, A Schinzel, and A Baumer

J Med Genet 2009; 46: 192-197.
Published Online First: 9 December 2008. doi:10.1136/jmg.2008.061820

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Mutation reports:

Novel mutations in patients with McArdle disease by analysis of skeletal muscle mRNA

I García-Consuegra, J C Rubio, G Nogales-Gadea, J Bautista, S Jiménez, A Cabello, A Lucía, A L Andreu, J Arenas, and M A Martin

J Med Genet 2009; 46: 198-202. doi:10.1136/jmg.2008.059469

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Mutations in LAMB2 causing a severe form of synaptic congenital myasthenic syndrome

R A Maselli, J J Ng, J A Anderson, O Cagney, J Arredondo, C Williams, H B Wessel, H Abdel-Hamid, and R L Wollmann

J Med Genet 2009; 46: 203-208. doi:10.1136/jmg.2008.063693

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Novel POLG1 mutations associated with neuromuscular and liver phenotypes in adults and children

J D Stewart, S Tennant, H Powell, A Pyle, E L Blakely, L He, G Hudson, M Roberts, D du Plessis, D Gow, L D Mewasingh, M G Hanna, S Omer, A A Morris, R Roxburgh, J H Livingston, R McFarland, D M Turnbull, P F Chinnery, and R W Taylor

J Med Genet 2009; 46: 209-214. doi:10.1136/jmg.2008.058180

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PostScript:

Succinate dehydrogenase subunit B (SDHB) gene deletion associated with a composite paraganglioma/neuroblastoma

R Armstrong, K L Greenhalgh, E Rattenberry, B Judd, R Shukla, P D Losty, and E R Maher

J Med Genet 2009; 46: 215-216. doi:10.1136/jmg.2008.060749

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Correction

J Med Genet 2009; 46: 216. doi:10.1136/jmg.2008.059568corr1

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