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Muscle imaging in dominant core myopathies linked or unlinked to the ryanodine receptor 1 gene

From the Institut National de la Santé et de la Recherche Médicale U582 (D.F., M.H., A.F., S.M., P.G., M.F., N.B.R.), Institut de Myologie, Groupe Hospitalier Pitié–Salpêtrière, Université Pierre et Marie Curie (M.H., A.F., P.G., M.F., N.B.R.), and Département de Neuroradiologie (H.M.B.-C., J.C.), Groupe Hospitalier Pitié–Salpêtrière, Paris, Service de Pédiatrie (L.V.), Hôpital Raymond Poincaré, Garches, Service d'Anatomie Pathologique (J.-P.L.), CHU Brest, Laboratoire de Biochimie et Génétique Moléculaire (N.M., J.L.), CHU Grenoble, and Institut National de la Santé et de la Recherche Médicale U607 (J.L.), Grenoble, France; Muskellabor (D.F.), Department of Neurology, University of Bonn, Germany; and Muskelzentrum/ALS Clinic (D.F.), Kantonsspital St. Gallen, Switzerland.

Address correspondence and reprint requests to Dr Romero, INSERM U582, Institut de Myologie, Groupe Hospitalier Pitié–Salpêtrière, Paris, France; e-mail: nb.romero{at}myologie.chups.jussieu.fr

Objective: To characterize the muscle involvement of patients with central core disease (CCD) caused by mutations in the ryanodine receptor 1 gene (RYR1) and to compare these findings with those from patients with core myopathies unlinked to the RYR1 gene.

Methods: We performed a systematic muscular imaging assessment in 11 patients with an RYR1 gene mutation and compared these findings with those of 5 patients from two unrelated families with autosomal dominant core myopathies not linked to RYR1, ACTA1, or MYH7 gene loci.

Results: All patients with RYR1 CCD had a characteristic pattern with predominant involvement of the gluteus maximus, adductor magnus, sartorius, vastus intermediolateralis, soleus, and lateral gastrocnemius muscles. In contrast, muscle CT in the first family not linked to RYR1 showed predominant affection of the gluteus minimus and hamstring muscles, whereas the second family presented with predominant involvement of the gluteus minimus, vastus intermediolateralis, tibialis anterior, and medial gastrocnemius muscles. In addition to muscle imaging data, we present detailed information on the clinical and pathologic findings of these novel phenotypes of core myopathies not linked to RYR1.

Conclusions: Our data suggest genetic heterogeneity in autosomal dominant core myopathies and the existence of additional unidentified genes.

Additional material related to this article can be found on the Neurology Web site. Go to www.neurology.org and scroll down the Table of Contents for the December 26 issue to find the title link for this article.

Supported by the DFG (Fi 913/2-1) and BONFOR (D.F.) and the Association Française contre les Myopathies and the PHRC (2804-1).

Disclosure: The authors report no conflicts of interest.

Received December 16, 2005. Accepted in final form September 13, 2006.