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Limb-girdle muscular dystrophy in a 71-year-old woman with an R27Q mutation in the CAV3 gene

From the Service d’anatomie pathologique et de neuropathologie (Drs. Figarella–Branger, Fernandez, and Pellissier), Service des maladies neuromusculaires (Dr. Pouget), and Laboratoire de génétique moléculaire (Drs. Bernard, Krahn, and Lévy), Département de génétique médicale, Campus Hospitalier et Universitaire de la Timone, Marseille, France.

Address correspondence and reprint requests to Dr. D. Figarella–Branger, Service d’anatomie pathologique et de neuropathologie, Faculté de médecine de Marseille, 27, bd. Jean Moulin, 13385 Marseille, Cedex 05, France; e-mail: Dominique.Figarella-Branger{at}medecine.univ-mrs.fr

The authors report a 71-year-old woman with limb-girdle muscular dystrophy (LGMD) associated with an R27Q mutation in the CAV3 gene. Immunohistochemistry showed a >90% reduction of caveolin-3 on the sarcolemma by western blot, and anti-dysferlin immunoreactivity was reduced. This case emphasizes that an R27Q missense mutation in the CAV3 gene can lead to various clinical phenotypes including hyperCKemia, rippling muscle disease, distal myopathy, and LGMD1C.

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