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S Barbera

Publications and source records attributed to S Barbera.

13 recordsLinked to original sources

Neonatal rhabdomyolysis as a presentation of muscular dystrophy.

We report a unique presentation of X-linked recessive dystrophy as neonatal rhabdomyolysis. There was induration of the proximal musculature in an otherwise well neonate and striking CK elevation, without myoglobinuria. Muscle biopsy at age 1 year showed dystrophic alterations, and X chromosome analysis showed a deletion within or adjacent to the Duchenne/Becker locus.

Creatine Kinase