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Article

Dominant and recessive central core disease associated with RYR1 mutations and fetal akinesia

16 Oct 2003

Abstract excerpt

We studied seven patients (fetuses/infants) from six unrelated families affected by central core disease (CCD) and presenting with a fetal akinesia syndrome. Two fetuses died before birth (at 31 and 32 weeks) and five infants presented severe symptoms at birth (multiple arthrogryposis, congenital dislocation of the hips, severe hypotonia and hypotrophy, skeletal and feet deformities, kyphoscoliosis, etc.)....

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Identifiers

PMID: 12937085
DOI: 10.1093/brain/awg244

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