Key result
Two novel CAV3 mutations causing severe protein truncation linked to autosomal-recessive Rippling Muscle Disease.
Why the study?
Hereditary Rippling Muscle Disease is usually autosomal-dominant, but autosomal-recessive forms with novel CAV3 mutations causing severe protein truncation require further characterization.
Case Report (n=1)
This case report identifies two novel compound heterozygous CAV3 mutations causing severe protein truncation in a patient with autosomal-recessive Rippling Muscle Disease.
No immediate clinical implications; hypothesis-generating and extends the CAV3 mutational spectrum in rippling muscle disease.
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), …
No takes yet. Share an insight, caveat, or question.
Traverso et al. (2007) conducted a case report in Autosomal-recessive Rippling Muscle Disease (n=1). Compound heterozygous CAV3 mutations was evaluated on Clinical, morphological and molecular analysis. Two novel compound heterozygous CAV3 mutations leading to severe protein truncation were identified in a 34-year-old woman with autosomal-recessive Rippling Muscle Disease.
Synapse has enriched 5 closely related papers on similar clinical questions. Consider them for comparative context: