Normal dystrophin in McLeod myopathy
- 1 November 1990
- journal article
- research article
- Published by Wiley in Annals of Neurology
- Vol. 28 (5) , 720-722
- https://doi.org/10.1002/ana.410280521
Abstract
Dystrophin and its gene were studied in a patient with McLeod syndrome. This X‐linked recessive myopathy has been localized to Xp21, as the Duchenne muscular dystrophy gene locus, which codes for dystrophin. Histopathological study of the patient's muscle showed mild subclinical myopathy. Immunological studies of dystrophin in two separate biopsy specimens and analysis of dystrophin gene DNA from a blood sample did not detect and abnormality. This suggests that the Duchenne muscular dystrophy gene, albeit close to the McLeod locus, is not involved in McLeod myopathy.This publication has 15 references indexed in Scilit:
- Familial X‐linked myalgia and crampsNeurology, 1989
- Molecular biology of duchenne and Becker's muscular dystrophy: Clinical applicationsAnnals of Neurology, 1989
- Xp21 DNA microdeletion in a patient with chronic granulomatous disease, retinitis pigmentosa, and McLeod phenotypeHuman Genetics, 1988
- Characterization of Dystrophin in Muscle-Biopsy Specimens from Patients with Duchenne's or Becker's Muscular DystrophyNew England Journal of Medicine, 1988
- CLINICAL CONCEPTS OF DUCHENNE MUSCULAR DYSTROPHYBrain, 1988
- Gene deletion in a patient with chronic granulomatous disease and McLeod syndrome: fine mapping of the Xk gene locusBlood, 1988
- Recent Developments in the Kell Blood Group SystemTransfusion Medicine Reviews, 1987
- BENIGN X- LINKED MYOPATHY WITH ACANTHOCYTES (MCLEOD SYNDROME)Brain, 1983
- Elevated Serum Creatine Phosphokinase in Subjects with McLeod SyndromeVox Sanguinis, 1981
- A New Phenotype (McLeod) in the Kell Blood‐group System*Vox Sanguinis, 1961