Udd distal myopathy

Evidence-based neurology checklist on udd distal myopathy: Genetics This is a titinopathy It is caused by mutations in the TTN gene on chromosome 2q The gene encodes the muscle protein titin: this stabilises calpain 3 The transmission is autosomal dominant Other titin related disorders Onset…

Genetics

  • This is a titinopathy
  • It is caused by mutations in the TTN gene on chromosome 2q
  • The gene encodes the muscle protein titin: this stabilises calpain 3
  • The transmission is autosomal dominant

Other titin related disorders

Onset features

Clinical features

Preserved muscles

Investigations

Synonym

References

  1. Dimachkie MM, Barohn RJ. Distal myopathies. Neurol Clin 2014; 32:817-842.
  2. Hackman P, Vihola A, Haravuori H, et al. Tibial muscular dystrophy is a titinopathy caused by mutations in TTN, the gene encoding the giant skeletal-muscle protein titin. Am J Hum Genet 2002; 71:492-500.
  3. Mastaglia FL, Laing NG. Distal myopathies: clinical and molecular diagnosis and classification. JNNP 1999; 67:703-709.
  4. Malicdan MCV, Nonaka I. Distal myopathies a review: highlights on distal myopathies with rimmed vacuoles. Neurol India 2008; 56:314-324.
  5. Udd B, Partanen J, Halonen P, et al. Tibial muscular dystrophy. Late adult-onset distal myopathy in 66 Finnish patients. Arch Neurol 1993; 50:604-608.
  6. And 6 more. Subscribe to see the full list

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