Key result
Among 28 Chinese patients with nemaline myopathy, clinical features showed great heterogeneity across typical congenital, childhood, and adult-onset types, with diagnosis relying on muscle biopsy.
Population
28 patients with nemaline myopathy from China, including 12 from a single hospital and 16 from literature.
Design
Case_series
Authors
Loading...
Muscle biopsy remains essential amid nemaline myopathy heterogeneity; this case series leaves open generalizability and genetic insights.
Observational (n=28)
Yes
Nemaline myopathy presents with significant clinical heterogeneity, and its diagnosis relies heavily on muscle biopsy revealing characteristic rods predominantly in type I fibers.
Yin et al. (2014) conducted an observational in Nemaline myopathy (n=28). Nemaline myopathy was evaluated. Among 28 Chinese patients with nemaline myopathy, clinical features showed great heterogeneity across typical congenital, childhood, and adult-onset types, with diagnosis relying on muscle biopsy.
Synapse has enriched 3 closely related papers on similar clinical questions. Consider them for comparative context: