Elevation of serum creatine kinase as the only manifestation of an intragenic deletion of the dystrophin gene in three unrelated families
- 1 January 1998
- journal article
- case report
- Published by Elsevier in European Journal of Paediatric Neurology
- Vol. 2 (5) , 255-261
- https://doi.org/10.1016/s1090-3798(98)80039-1
Abstract
No abstract availableKeywords
This publication has 25 references indexed in Scilit:
- Duchenne phenotype with in-frame deletion removing major portion of dystrophin rod: Threshold effect for deletion size?Muscle & Nerve, 1996
- Deletions in the 5' region of dystrophin and resulting phenotypes.Journal of Medical Genetics, 1994
- Amino‐terminal deletion of 53% of dystrophin results in an intermediate Duchenne‐Becker muscular dystrophy phenotypeNeurology, 1994
- Integrated study of 100 patients with Xp21 linked muscular dystrophy using clinical, genetic, immunochemical, and histopathological data. Part 2. Correlations within individual patients.Journal of Medical Genetics, 1993
- The structural and functional diversity of dystrophinNature Genetics, 1993
- Effect of dystrophin gene deletions on mRNA levels and processing in Duchenne and Becker muscular dystrophiesCell, 1990
- Frame-Shift Deletions in Patients with Duchenne and Becker Muscular DystrophyScience, 1988
- Further studies of gene deletions that cause Duchenne and Becker muscular dystrophiesGenomics, 1988
- An explanation for the phenotypic differences between patients bearing partial deletions of the DMD locusGenomics, 1988
- Complete cloning of the duchenne muscular dystrophy (DMD) cDNA and preliminary genomic organization of the DMD gene in normal and affected individualsCell, 1987