Marked hemiatrophy in carriers of Duchenne muscular dystrophy.

Objective: To describe the clinical and molecular genetic findings in 2 carriers of Duchenne muscular dystrophy (DMD) who exhibited marked hemiatrophy. Duchenne muscular dystrophy is an X-linked disorder in which affected male patients harbor mutations in the dystrophin gene. Female patients with heterozygous mutations may be manifesting carriers.

EMQN Best Practice Guidelines for molecular genetic testing of SCAs.

Other participants at the EMQN Best Practice Meeting and/or at the electronic discussions thereafter were Isabel Alonso, Anna Andersson, David Barton, Nazli Bazac, Kyproula Christodoulou, Luís Correia, Mark Davis, Mary Davis, Rob Elles, Marina Frontali, Javier Garcia-Planells, Paola Giunti, Petra Hämäläinen, Jenni Jonasson, Outi Kamarainen, Nina Larsson, Eric Leguern, Monique Losekoot, Carla Martins, Michael Morris, Clemens Müller-Reible, Simon Patton, M Luiza Saraiva-Pereira, Jorge Pinto-Basto, Beatriz Quintáns, Simon C Ramsden, Anna Ravani, Laura Rooke, Isabel Silveira, Richard Sinke, Su Stenhouse, Laura Stewart, Katrien Storm, Anna Sulek-Piatkowska, Francine Thonney, Victor Volpini, Jon Warner, Helga Weirich, Stefan Wieczorek and Christine Zühlke.

Ten novel RB1 gene mutations in patients with retinoblastoma.

Purpose: To study phenotype-genotype correlations in 65 retinoblastoma patients, who were seen between March 2004 and January 2006 and to report undescribed retinoblastoma 1 (RB1) mutations identified in ten additional patients in whom mutations were detected before 2004.

Methods: Complete ophthalmic examinations were performed in all patients and their parents. DNA was extracted from peripheral blood leukocytes, and the RB1 gene was screened by denaturing high-performance liquid chromatography and direct sequencing of the promoter and all the exons.

Comparative efficacy of repetitive nerve stimulation, exercise, and cold in differentiating myotonic disorders.

The decremental response of the compound muscle action potential (CMAP) to provocative tests is not characterized in genetically verified myotonic disorders. We therefore studied the relationship between decremental responses and mutation type in 10 patients with recessive myotonia congenita (rMC), two with paramyotonia congenita (PMC), nine with myotonic dystrophy type 1 (DM1), four with DM2, and 14 healthy people. CMAPs were measured at rest, just after a short exercise test (SET), and during short, 5- and 10-HZ, repetitive nerve stimulation (RNS) trains at 32 degrees C and at 20 degrees C.

Fetus with two identical reciprocal translocations: description of a rare complication of consanguinity.

We report on a 24-week fetus with multiple organ anomalies secondary to biparental inheritance of an apparently balanced t(17;20) reciprocal translocation. The pregnancy was terminated following the discovery by ultrasound of an abnormal heart and micrognathia. At autopsy, the following anomalies were found: Pierre-Robin sequence, hypoplasia of the right ventricle with muscular hypertrophy, and endocardial fibroelastosis, hypoplastic lungs, dysplastic left kidney, bilateral pelvicalyceal dilatation, central nervous system periventricular heterotopias and right sided club foot.