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Differentiation of Becker muscular dystrophy from limb‐girdle muscular dystrophy and Kugelberg‐Welander disease using a cDNA probe
Author(s) -
Laing Nigel C.,
Mears Margaret E.,
Thomas Helen E.,
Chandler David C.,
Layton Maria G.,
Kakulas Byron A.,
Goldblatt Jack
Publication year - 1990
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.1326-5377.1990.tb120926.x
Subject(s) - muscular dystrophy , limb girdle muscular dystrophy , spinal muscular atrophy , differential diagnosis , medicine , neuromuscular disease , dystrophin , disease , genetics , biology , pathology , gene , mutation
A 31‐year‐old man previously investigated for a neuromuscular disorder was diagnosed as having either limb‐girdle dystrophy, spinal muscular atrophy, or Becker muscular dystrophy. Extensive clinical and special neurological investigations failed to clarify this differential diagnosis. However, recent DNA studies have shown a deletion of the dystrophin gene, thereby providing an unequivocal diagnosis of Becker muscular dystrophy. The application of molecular genetic techniques in the diagnosis of inherited neuromuscular disorders is discussed.