Genetic heterogeneity for Duchenne-like muscular dystrophy (DLMD) based on linkage and 50 DAG analysis

MR Passos-Bueno, JR Oilvelra, E Bakker… - Human molecular …, 1993 - academic.oup.com
Duchenne-like muscular dystrophy (DLMD) is an autosomal recessive (AR) muscular
dystrophy which presents a clinical course Indistinguishable from the Xp21 Duchenne …

Characterisation of dystrophin in carriers of Duchenne muscular dystrophy

A Clerk, E Rodillo, JZ Heckmatt, V Dubowitz… - Journal of the …, 1991 - Elsevier
Dystrophin, the protein product of the Duchenne muscular dystrophy (DMD) gene, was
studied in needle biopsy samples taken from the quadriceps muscle of 15 asymptomatic …

Screening Duchenne and Becker muscular dystrophy patients for deletions in 30 exons of the dystrophin gene by three-multiplex PCR.

AE Covone, F Caroli, G Romeo - American journal of human …, 1992 - ncbi.nlm.nih.gov
a, Multiplex DNA amplification of 12 exons of the DMD gene (lanes 1-4), using a
modification of Chamberlain's reaction (Chamberlain et al. 1989). The exon number and the …

Red-green color vision impairment in Duchenne muscular dystrophy

MF Costa, AGF Oliveira, C Feitosa-Santana… - The American Journal of …, 2007 - cell.com
The present study evaluated the color vision of 44 patients with Duchenne muscular
dystrophy (DMD)(mean age 14.8 years; SD 4.9) who were submitted to a battery of four …

Correlation of clinical and deletion data in Duchenne and Becker muscular dystrophy, with special reference to mental ability

SV Hodgson, S Abbs, S Clark, A Manzur… - Neuromuscular …, 1992 - Elsevier
We report the results of screening for molecular deletions in 164 boys with DMD and BMD
and correlation of deletions with clinical features. A deletion was detected in 100 cases …

Clinical heterogeneity of duchenne muscular dystrophy (DMD): definition of sub-phenotypes and predictive criteria by long-term follow-up

I Desguerre, C Christov, M Mayer, R Zeller… - PloS one, 2009 - journals.plos.org
Background To explore clinical heterogeneity of Duchenne muscular dystrophy (DMD),
viewed as a major obstacle to the interpretation of therapeutic trials Methodology/Principal …

Mapping of dystrophin brain promoter: a deletion of this region is compatible with normal intellect

JT den Dunnen, L Casula, A Makover, B Bakker… - Neuromuscular …, 1991 - Elsevier
Using a mouse genomic fragment containing the brain-specific promoter region of the
dystrophin gene, we have located the brain promoter 75–300 kb proximal of the muscle …

Cognitive and adaptive deficits in young children with Duchenne muscular dystrophy (DMD)

SE Cyrulnik, RJ Fee, A Batchelder, J Kiefel… - Journal of the …, 2008 - cambridge.org
The goal of the current investigation was to examine adaptive behavior and cognitive skills
in young children with Duchenne muscular dystrophy (DMD), a genetic disorder that causes …