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The diagnosis of Duchenne and Becker muscular dystrophies: two years' experience in a comprehensive carrier screening and prenatal diagnostic laboratory
Author(s) -
Laing Nigel G,
Mears Margaret E,
Chandler David C,
Layton Maria G,
Thomas Helen E,
Johnsen Russell D,
Kakulas Byron A,
Goldblatt Jack
Publication year - 1991
Publication title -
medical journal of australia
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.904
H-Index - 131
eISSN - 1326-5377
pISSN - 0025-729X
DOI - 10.5694/j.1326-5377.1991.tb112839.x
Subject(s) - duchenne muscular dystrophy , muscular dystrophy , spinal muscular atrophy , medicine , neurogenetics , neuropathology , limb girdle muscular dystrophy , prenatal diagnosis , dna testing , myopathy , pediatrics , genetics , pathology , disease , mutation , biology , gene , pregnancy , fetus
This article describes the diagnostic algorithm being used for the management of the 148 families affected by Duchenne or Becker muscular dystrophy who are known to the Molecular Neurogenetics Laboratory in the Department of Neuropathology, Royal Perth Hospital. In 60 families from whom DNA has been obtained, 41 mutations (39 deletions and two duplications) of the Duchenne muscular dystrophy gene (DMD) have been identified by means of complementary DNA (eDNA) probes. DNAbased screening has clarified the carrier status of 45 at‐risk women, and 13 pregnancies have been monitored. In addition, eDNA screening of all relevant patients with autosomal recessive muscular dystrophy, spinal muscular atrophy or limb‐girdle muscular dystrophy facilitated the correct diagnosis of Becker muscular dystrophy in three patients.