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Brain Advance Access originally published online on August 22, 2003
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Brain, Vol. 126, No. 11, 2341-2349, November 2003
© 2003 Guarantors of Brain
doi: 10.1093/brain/awg244

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

Norma Beatriz Romero1, Nicole Monnier3, Louis Viollet5, Anne Cortey6, Martine Chevallay1, Jean Paul Leroy2, Joël Lunardi3,4 and Michel Fardeau1

1 Inserm U 582 and Institut de Myologie, CHU Pitié-Salpêtrière, Paris, 2 Service d’Anatomie Pathologique, CHU Brest, 3 Laboratoire de Biochimie de l’ADN, CHU Grenoble, 4 Laboratoire BECP/DBMS, EA 2943 UJF–CEA, Grenoble, 5 Service de Pédiatrie, Hôpital Raymond Poincaré, Garches and 6 CHU de Nancy, Nancy, France

Correspondence to: Professor Michel Fardeau, Institute of Myology, CHU Pitié-Salpêtrière, Paris, France E-mail: m.fardeau{at}myologie.chups.jussieu.fr

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.). Histochemical and ultrastructural studies of muscle biopsies confirmed the diagnosis of CCD showing unique large eccentric cores. Molecular genetic investigations led to the identification of mutations in the ryanodine receptor (RYR1) gene in three families, two with autosomal recessive (AR) and one with autosomal dominant (AD) inheritance. RYR1 gene mutations were located in the C-terminal domain in two families (AR and AD) and in the N-terminal domain of the third one (AR). This is the first report of mutations in the RYR1 gene involved in a severe form of CCD presenting as a fetal akinesia syndrome with AD and AR inheritances.


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