DMPKREPEATEXPANSIONS

Gene

1 paper3 findings

  • 1 lab in 1 country
  • Humans1

Associations

3

Cardiac conduction abnormalities

upin humans1OR 4.86

1 study
  1. DMPKREPEATEXPANSIONS is associated with cardiac conduction abnormalities in humans (OR 4.86, CI 3.38–6.79).

    HumansUK Biobank; pathogenic DMPK expansion defined as ≥50 repeatsn = 490,086

    Myotonic dystrophy gene changes found in 1 in 1,527 people

    Brain : a journal of neurology10 Oct 2026

More on Cardiac conduction abnormalities

Cardiac diagnostic burden

upin humans1

1 study
  1. DMPKREPEATEXPANSIONS is associated with cardiac diagnostic burden in humans (Risk ratio 2.46, CI 1.92–3.15).

    HumansUK Biobank; pathogenic DMPK expansion defined as ≥50 repeatsn = 490,086

    Myotonic dystrophy gene changes found in 1 in 1,527 people

    Brain : a journal of neurology10 Oct 2026

Any cardiac diagnosis

upin humans1OR 2.06

1 study
  1. DMPKREPEATEXPANSIONS is associated with any cardiac diagnosis in humans (OR 2.06, 95% CI 1.58–2.67).

    HumansUK Biobank; pathogenic DMPK expansion defined as ≥50 repeatsn = 490,086

    Myotonic dystrophy gene changes found in 1 in 1,527 people

    Brain : a journal of neurology10 Oct 2026

More on Any cardiac diagnosis

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Brain

Myotonic dystrophy gene changes found in 1 in 1,527 people

Across 985,026 participants, disease-causing DNA expansions occurred in about 1 in 1,527, compared with earlier disease prevalence estimates of 1 in 3,000–8,000.Across 985,026 participants, disease-causing DNA expansions occurred in about 1 in 1,527, compared with earlier disease prevalence estimates of 1 in 3,000–8,000.

Genetic association study of 985,026 peoplePopulations