A large multi-generation family with a novel CAV3 mutation highlights extreme phenotypic variability and early childhood presentations

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We describe a three generation family with multiple members affected by caveolinopathy due to a novel CAV3 mutation c.218A>G (p.Tyr73Cys). The proband presented in the second year of life with a history of neonatal hypotonia, gross motor delay, exercise intolerance, eight-fold elevated CK and absent caveolin 3 immunostaining on biopsy. Now aged ten years, he has only mild muscle weakness but remains severely limited by muscle pain and fatigue. Clinical features in the multiple affected relatives who were subsequently identified illustrate the known intra-familial variability in phenotypes.

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