Dystrophin: The protein product of the duchenne muscular dystrophy locus
Complete cloning of the duchenne muscular dystrophy (DMD) cDNA and preliminary genomic organization of the DMD gene in normal and affected individuals
The complete sequence of dystrophin predicts a rod-shaped cytoskeletal protein
An explanation for the phenotypic differences between patients bearing partial deletions of the DMD locus.
The structural and functional diversity of dystrophin
Genetic, biochemical and anatomical studies of dystrophin suggest that a number of distinct functions are subserved by its great structural diversity and may lead to an understanding of the cause and perhaps a rational treatment for muscular dystrophy.
Gene expression comparison of biopsies from Duchenne muscular dystrophy (DMD) and normal skeletal muscle
- J. N. Haslett, D. Sanoudou, L. Kunkel
- Biology, MedicineProceedings of the National Academy of Sciences…
- 1 November 2002
To examine the pathogenic pathways and identify new or modifying factors involved in muscular dystrophy, expression microarrays were used to compare individual gene expression profiles of skeletal muscle biopsies from 12 DMD patients and 12 unaffected control patients and identified 105 genes that differ significantly in expression level between unaffected and DMD muscle.
The molecular basis for Duchenne versus Becker muscular dystrophy: correlation of severity with type of deletion.
The distribution and frequency of deletions spanning the entire locus suggests that many "in-frame" deletions of the dystrophin gene are not detected because the individuals bearing them are either asymptomatic or exhibit non-DMD/non-BMD clinical features.
Filamin 2 (FLN2): A Muscle-specific Sarcoglycan Interacting Protein
Using the yeast two-hybrid method, a skeletal muscle-specific form of filamin is identified, which is term filamin 2 (FLN2), as a γ- and δ-sarcoglycan interacting protein which introduces new implications for the pathogenesis of muscular dystrophy.
Cloning and characterization of two human skeletal muscle alpha-actinin genes located on chromosomes 1 and 11.
The homologue of the Duchenne locus is defective in X-linked muscular dystrophy of dogs
It is reported here that dogs with CXMD faithfully mimic the phenotype of Duchenne muscular dystrophy and that they lack the Duchennes gene transcript and its protein product, dystrophin.