Key result
Five cases from a family presented with a dominant hereditary disease characterized by myotonia, muscular hypertrophy, and increased muscle irritability, distinct from myotonia congenita Thomsen.
Population
5 cases from a family with a dominant hereditary disease presenting myotonia, muscular hypertrophy and…
Design
Case_series
Authors
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May warrant inclusion in hereditary myotonia differentials; leaves open genetic delineation and classification.
Case Report (n=5)
Describes a novel dominant hereditary syndrome characterized by myotonia, muscular hypertrophy, and increased muscle irritability.
T. Torbergsen (1975) conducted a case report in Dominant hereditary myotonia, muscular hypertrophy, and increased muscular irritability (n=5). Dominant hereditary disease presenting myotonia, muscular hypertrophy, and increased muscle irritability was evaluated on Clinical presentation and diagnosis. Five cases from a family presented with a dominant hereditary disease characterized by myotonia, muscular hypertrophy, and increased muscle irritability, distinct from myotonia congenita Thomsen.
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