Is the carboxyl-terminus of dystrophin required for membrane association? A novel, severe case of duchenne muscular dystrophy

Complete cloning of the duchenne muscular dystrophy (DMD) cDNA and preliminary genomic organization of the DMD gene in normal and affected individuals

1987 • 2,353 citations

The complete sequence of dystrophin predicts a rod-shaped cytoskeletal protein

1988 • 1,501 citations

An explanation for the phenotypic differences between patients bearing partial deletions of the DMD locus

1988 • 1,140 citations

The molecular basis for Duchenne versus Becker muscular dystrophy: correlation of severity with type of deletion.

1989 • 940 citations

Characterization of Dystrophin in Muscle-Biopsy Specimens from Patients with Duchenne's or Becker's Muscular Dystrophy

1988 • 910 citations

Duchenne muscular dystrophy: Deficiency of dystrophin at the muscle cell surface

1988 • 617 citations

Very mild muscular dystrophy associated with the deletion of 46% of dystrophin

1990 • 578 citations

Topography of the Duchenne muscular dystrophy (DMD) gene: FIGE and cDNA analysis of 194 cases reveals 115 deletions and 13 duplications.

1989 • 498 citations

Detailed analysis of the repeat domain of dystrophin reveals four potential hinge segments that may confer flexibility.

1990 • 384 citations

Alternative splicing of human dystrophin mRNA generates isoforms at the carboxy terminus

1989 • 332 citations

Dystrophin abnormalities in Duchenne/Becker muscular dystrophy

1989 • 330 citations

Improved diagnosis of Becker muscular dystrophy by dystrophin testing

1989 • 289 citations

Molecular and clinical correlations of deletions leading to Duchenne and Becker muscular dystrophies

1989 • 189 citations

Dystrophin diagnosis: comparison of dystrophin abnormalities by immunofluorescence and immunoblot analyses.

1989 • 155 citations

Heterogeneity of dystrophin expression in patients with Duchenne and Becker muscular dystrophy

1990 • 150 citations

Myology: Basic and Clinical

1987 • 148 citations

Familial X-linked myalgia and cramps: A nonprogressive myopathy associated with a deletion in the dystrophin gene

1989 • 141 citations

Mosaic Expression of Dystrophin in Symptomatic Carriers of Duchenne's Muscular Dystrophy

1989 • 141 citations

The chicken dystrophin cDNA: striking conservation of the C-terminal coding and 3′ untranslated regions between man and chicken.

1988 • 106 citations

Preservation of the C-terminus of dystrophin molecule in the skeletal muscle from Becker muscular dystrophy

1991 • 92 citations

Discordance of muscular dystrophy in monozygotic female twins: Evidence supporting asymmetric splitting of the inner cell mass in a manifesting carrier of Duchenne dystrophy

1991 • 86 citations

Normal and dystrophin-deficient muscle fibers in carriers of the gene for Duchenne muscular dystrophy.

1988 • 81 citations

The frequency of patients with dystrophin abnormalities in a limb-girdle patient population

1991 • 78 citations

Quadriceps myopathy: Forme fruste of Becker muscular dystrophy

1990 • 75 citations

Different localization of dystrophin in developing and adult human skeletal muscle

1991 • 58 citations

Complementary DNA probes for the Duchenne muscular dystrophy locus demonstrate a previously undetectable deletion in a patient with dystrophic myopathy, glycerol kinase deficiency, and congenital adrenal hypoplasia.

1989 • 57 citations

DISTINCTION OF BECKER FROM LIMB-GIRDLE MUSCULAR DYSTROPHY BY MEANS OF DYSTROPHIN cDNA PROBES

1989 • 55 citations

Dystrophin deficiency in young girls with sporadic myopathy and normal karyotype

1991 • 27 citations

Deleted Work

1955 • 0 citations

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