Neurology

Is growth hormone treatment beneficial or harmful in Costello syndrome?
B Kerr, M A Einaudi, P Clayton, G Gladman, T Eden, P Saunier, D Genevieve, N Philip

Journal of Medical Genetics Jun 2003, 40 (6) e74; DOI: 10.1136/jmg.40.6.e74
Mutations in the ND5 subunit of complex I of the mitochondrial DNA are a frequent cause of oxidative phosphorylation disease
M J Blok, L Spruijt, I F M de Coo, K Schoonderwoerd, A Hendrickx, H J Smeets

Journal of Medical Genetics Apr 2007, 44 (4) e74; DOI: 10.1136/jmg.2006.045716
Spontaneous recovery of a childhood onset mitochondrial myopathy caused by a stop mutation in the mitochondrial cytochrome c oxidase III gene
R Horváth, H Lochmüller, M Hoeltzenbein, J Müller-Höcker, B G Schoser, D Pongratz, M Jaksch

Journal of Medical Genetics Jun 2004, 41 (6) e75; DOI: 10.1136/jmg.2003.015024
Autosomal dominant (AD) pure spastic paraplegia (HSP) linked to locus SPG4 affects almost exclusively males in a large pedigree
A Starling, P Rocco, M R Passos-Bueno, J Hazan, S K Marie, M Zatz

Journal of Medical Genetics Dec 2002, 39 (12) e77; DOI: 10.1136/jmg.39.12.e77
Microcephaly-cardiomyopathy syndrome: expansion of the phenotype
K Becker, R Yates

Journal of Medical Genetics Jun 2003, 40 (6) e78; DOI: 10.1136/jmg.40.6.e78
PRKAR1A, one of the Carney complex genes, and its locus (17q22-24) are rarely altered in pituitary tumours outside the Carney complex
F Sandrini, L S Kirschner, T Bei, C Farmakidis, J Yasufuku-Takano, K Takano, T R Prezant, S J Marx, W E Farrell, R N Clayton, L Groussin, J Bertherat, C A Stratakis

Journal of Medical Genetics Dec 2002, 39 (12) e78; DOI: 10.1136/jmg.39.12.e78
Frequency of mutations in the early growth response 2 gene associated with peripheral demyelinating neuropathies
N Vandenberghe, M Upadhyaya, A Gatignol, L Boutrand, M Boucherat, G Chazot, A Vandenberghe, P Latour

Journal of Medical Genetics Dec 2002, 39 (12) e81; DOI: 10.1136/jmg.39.12.e81
Possible founder effect of rapsyn N88K mutation and identification of novel rapsyn mutations in congenital myasthenic syndromes
P Richard, K Gaudon, F Andreux, E Yasaki, C Prioleau, S Bauché, A Barois, C Ioos, M Mayer, M C Routon, M Mokhtari, J P Leroy, E Fournier, B Hainque, J Koenig, M Fardeau, B Eymard, D Hantaï

Journal of Medical Genetics Jun 2003, 40 (6) e81; DOI: 10.1136/jmg.40.6.e81
Clusters of non-truncating mutations of P/Q type Ca²⁺ channel subunit Ca_v2.1 causing episodic ataxia 2
E Mantuano, L Veneziano, M Spadaro, P Giunti, S Guida, M G Leggio, L Verriello, N Wood, C Jodice, M Frontali

Journal of Medical Genetics Jun 2004, 41 (6) e82; DOI: 10.1136/jmg.2003.015396
Maternally inherited non-syndromic hearing impairment in a Spanish family with the 7510T>C mutation in the mitochondrial tRNA^Ser(UCN) gene
F J del Castillo, M Villamar, M A Moreno-Pelayo, J J Almela, C Morera, I Adiego, F Moreno, I del Castillo

Journal of Medical Genetics Dec 2002, 39 (12) e82; DOI: 10.1136/jmg.39.12.e82

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