DYSTROPHIN-POSITIVE MYOTUBES IN INNERVATED MUSCLE CULTURES FROM DUCHENNE AND BECKER MUSCULAR-DYSTROPHY PATIENTS

Nerve muscle co-cultures from five Duchenne muscular dystrophy (DMD) patients and one Becker (BMD) patient, were studied by immunocytochemistry with antibodies against different portions of dystrophin. Four DMD patients had a deletion in the dystrophin gene. Some dystrophin-positive myotubes were detected in a few samples of all DMD cases. PCR amplification of exon 8 of the dystrophin gene ruled out a contamination from rat spinal cord during innervation. Our results in three DMD cases, may be explained by a clonal selection of dystrophin-positive fibers observed in muscle biopsies, while in the other two cases, a ''frame-restoring'' mutation might account for the presence of dystrophin-positive myotubes. The possible expression of ''dystrophin-related protein'' or dystrophin immature isoform was considered. In the BMD case an abnormal truncated dystrophin was found in innervated muscle cultures, as well as in muscle biopsy.