Molecular deletion patterns in families from southern France with Duchenne/Becker muscular dystrophies |
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Authors: | Mireille Claustres Sylvie Tuffery Marie-Pierre Chevron Marie-Pierre Jozelon Patricia Martinez Bernard Echenne Jacques Demaille |
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Institution: | (1) INSERM U. 249. CRBM/CNRS UPR 8402, Institut de Biologie, Montpellier, France;(2) Neuropediatric Department, Hôpital Gui de Chauliac, F-34000 Montpellier, France;(3) Laboratoire de Biochimie Génétique, Institut de Biologie, Boulevard Henri IV, F-34060 Montpellier, France |
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Abstract: | Summary We studied 38 unrelated patients from southern France with Duchenne (DMD) or Decker (BMD) muscular dystrophy for intragenic deletions of the DMD/ BMD gene. We used both multiplex amplification of selected exons and cDNA probes. Of the 26 (68%) unrelated individuals found to have deletions, 24 (92%) were detected by multiplex polymerase chain reaction. All these deletions have been delineated with regard to the exon-containing HindIII fragments revealed by cDNA probes, and in two cases, junction fragments of altered size were seen. The correlation between phenotype and type of deletion agreed with the reading frame theory, except for two BMD and two DMD cases. |
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