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Mutations in the Caveolin-3 gene (CAV3) have been associated with heterogeneous overlapping phenotypes, including: Limb Girdle Muscular Dystrophy type 1C (LGMD-1C), Isolated Elevated Serum Creatine Kinase (HyperCKemia), Distal Myopathy (DM), Rippling Muscle Disease (RMD), Hypertrophic Cardiomyopathy (HCM) and Congenital Long-QT Syndrome (LQTS).1 2
Hereditary RMD is a rare muscle disorder that is characterised by muscle stiffness, exercise-induced myalgias, cramp-like sensations and self-propagating rippling of muscles induced by stretch or percussion. Muscle hypertrophy and increased serum CK levels are also typical features. RMD is usually transmitted in an autosomal-dominant manner, but one homozygous missense mutation (A92T) was recently identified in two patients with a recessive form of RMD.3
Caveolin-3 (Cav-3) is a 22 kDa protein that is composed of 150 amino-acid residues, which are encoded by the CAV3 gene (MIM #601253) on chromosome 3p25.1
Here, we report the clinical, morphological and molecular analysis of a patient with autosomal-recessive RMD carrying two novel compound heterozygous CAV3 mutations that lead to a severe protein truncation.
At the age of 34 years, a woman was referred to our attention for generalised muscle weakness, exercise-related cramps and myalgias, and hyperCKemia, symptoms that were present since her childhood. Physical examination revealed muscular weakness (particularly severe in the lower limbs), …
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