Population
3 unrelated patients with congenital myopathy (cap disease) and early-onset muscle weakness
Design
Case_series
Authors
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Broadens TPM2 spectrum in cap myopathy; extends known variants but leaves open need for validation in larger cohorts.
Mutations in TPM2 are a frequent cause of cap disease, characterized by specific morphologic features like coarse-meshed intermyofibrillar network and jagged Z lines.
Ohlsson et al. (2008) studied this question.
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