Population
11 patients with nemaline myopathy, their parents, and some healthy relatives
Design
Case_series
Authors
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Supports distinct genetic subtypes despite identical presentation; leaves open targeted genetic studies in nemaline myopathy.
Nemaline myopathy has at least two distinct genetic inheritance patterns (autosomal dominant and recessive) that present with identical clinical and histopathological features.
Arts et al. (1978) studied this question.
Synapse has enriched 5 closely related papers on similar clinical questions. Consider them for comparative context: