Muscle disease

Multiple exon skipping and RNA circularisation contribute to the severe phenotypic expression of exon 5 dystrophin deletion
F Gualandi, C Trabanelli, P Rimessi, E Calzolari, L Toffolatti, T Patarnello, G Kunz, F Muntoni, A Ferlini

Journal of Medical Genetics Aug 2003, 40 (8) e100; DOI: 10.1136/jmg.40.8.e100
Characterisation of repeat and palindrome elements in patients harbouring single deletions of mitochondrial DNA
A Solano, J Gámez, F J Carod, M Pineda, A Playán, E López-Gallardo, A L Andreu, J Montoya

Journal of Medical Genetics Jul 2003, 40 (7) e86; DOI: 10.1136/jmg.40.7.e86
Novel sarcoglycan gene mutations in a large cohort of Italian patients
C Boito, M Fanin, G Siciliano, C Angelini, E Pegoraro

Journal of Medical Genetics May 2003, 40 (5) e67; DOI: 10.1136/jmg.40.5.e67
A complex deletion-inversion-deletion event results in a chimeric IL1RAPL1-dystrophin transcript and a contiguous gene deletion syndrome
J M Wheway, S C Yau, V Nihalani, D Ellis, M Irving, M Splitt, R G Roberts

Journal of Medical Genetics Feb 2003, 40 (2) 127-131; DOI: 10.1136/jmg.40.2.127
Genotype-phenotype correlations in 35 Brazilian families with sarcoglycanopathies including the description of three novel mutations
E S Moreira, M Vainzof, O T Suzuki, R C M Pavanello, M Zatz, M R Passos-Bueno

Journal of Medical Genetics Feb 2003, 40 (2) e12; DOI: 10.1136/jmg.40.2.e12
Appraisal of genetic and epigenetic congruity of a monozygotic twin pair discordant for schizophrenia
P McDonald, M Lewis, B Murphy, R O’Reilly, S M Singh

Journal of Medical Genetics Feb 2003, 40 (2) e16; DOI: 10.1136/jmg.40.2.e16
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
Comparison of genetic services with and without genetic registers: knowledge, adjustment, and attitudes about genetic counselling among probands referred to three genetic clinics
C Wright, L Kerzin-Storrar, P R Williamson, A Fryer, A Njindou, O Quarrell, D Donnai, D Craufurd

Journal of Medical Genetics Dec 2002, 39 (12) e84; DOI: 10.1136/jmg.39.12.e84
Comparison of genetic services with and without genetic registers: access and attitudes to genetic counselling services among relatives of genetic clinic patients
L Kerzin-Storrar, C Wright, P R Williamson, A Fryer, A Njindou, O Quarrell, D Donnai, D Craufurd

Journal of Medical Genetics Dec 2002, 39 (12) e85; DOI: 10.1136/jmg.39.12.e85
Childhood onset mitochondrial myopathy and lactic acidosis caused by a stop mutation in the mitochondrial cytochrome c oxidase III gene
R Horváth, C Scharfe, M Hoeltzenbein, B H Do, C Schröder, R Warzok, S Vogelgesang, H Lochmüller, J Müller-Höcker, K D Gerbitz, P J Oefner, M Jaksch

Journal of Medical Genetics Nov 2002, 39 (11) 812-816; DOI: 10.1136/jmg.39.11.812

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