E Gordon Murphy

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Eighty unrelated individuals with Duchenne muscular dystrophy (DMD) or Becker muscular dystrophy (BMD) were found to have deletions in the major deletion-rich region of the DMD locus. This region includes the last five exons detected by cDNA5b-7, all exons detected by cDNA8, and the first two exons detected by cDNA9. These 80 individuals account for(More)
Partial gene deletion is the major cause of mutation leading to Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD). Partial gene duplication has also been recognized in a few cases. We have conducted a survey for duplication in 72 unrelated nondeletion patients, analyzed by Southern blot hybridization with clones representing the entire(More)
Examination by light and electron microscopy of more than 100 muscle biopsies revealed one very unusual case. A 4-year-old boy with non-progressive muscle weakness and hypotonia was found to have small particles, termed "myogranules", in many muscle fibres from two gastrocnemius biopsies. Paraffin sections and thin sections of plastic-embedded muscle showed(More)
Duchenne muscular dystrophy (DMD) is a primary myopathy determined by an X-linked gene. In addition to causing muscle wasting and physical disability, DMD is associated with a concomitant reduction in intellectual functioning. This paper reports data obtained by psychometric evaluation of a series of patients with DMD, their sibs, and of heterozygous female(More)
Distinctive subsarcolemmal acid phosphatase-positive crescents were found in many muscle fibers of triceps muscle biopsies from 2 siblings with cardiomyopathy. The crescents appeared as dense osmophilic material in irregular vermiform arrays on electron microscopy. However, both patients had clinically normal skeletal muscle function. These 2 cases are(More)
Children, adolescents, and young adults with temporal lobectomy judged the context of their encounters with a word (by deciding about its prior occurrence or familiarity) and also identified word attributes involving associative content and serial order (by indicating word meanings and reconstructing word sequences). Laterality of temporal lobectomy was(More)
Giant-axonal neuropathy (GAN), a chronic peripheral neuropathy with associated Central Nervous System dysfunction and tight curly hair, is described in a 17-year-old girl. Biopsies of this girl's muscle and nerve are characteristic of this condition. Her clinical course over a 12 year period characterizes a disease of a slowly progressive nature.
Duchenne and Becker muscular dystrophies (DMD and BMD) are progressive muscle wasting disorders with an X linked recessive mode of inheritance. We have surveyed 120 unrelated patients with DMD or BMD for gene duplications using a series of genomic probes from within the DMD/BMD gene locus. In three patients, two with DMD and one with BMD, a duplicated(More)
Antibodies directed against the amino- and carboxy-terminal regions of dystrophin have been used to characterize 25 Duchenne muscular dystrophy (DMD), two intermediate, and two Becker muscular dystrophy (BMD) patients. Western blot analysis revealed an altered-size (truncated) immunoreactive dystrophin band in 11 of the 25 DMD patients, in one of the two(More)