Limb girdle muscular dystrophy type 2J (LGMD 2J)

Evidence-based neurology checklist on limb girdle muscular dystrophy type 2j (lgmd 2j): Genetics This is caused by mutations in the TTN (titin) gene on chromosome 2q31 It is reported in one Finnish family The onset is in the first to third decades Clinical features Unusual phenotypes Other titin…

Genetics

  • This is caused by mutations in the TTN (titin) gene on chromosome 2q31
  • It is reported in one Finnish family
  • The onset is in the first to third decades

Clinical features

Unusual phenotypes

Other titin phenotypes

Investigations

References

  1. Nigro V, Savarese M. Genetic basis of limb-girdle muscular dystrophies: the 2014 update. Acta Myol 2014; 33:1-12. 
  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. Bushby K. Diagnosis and management of the limb girdle muscular dystrophies. Pract Neurol 2009; 9:314-323. 
  4. Pénisson-Besnier I, Hackman P, et al. Myopathies caused by homozygous titin mutations: limb-girdle muscular dystrophy 2J and variations of phenotype. JNNP 2010; 81:1200-1202.
  5. Udd B, Vihola A, Sarparanta J, Richard I, Hackman P. Titinopathies and extension of the M-line mutation phenotype beyond distal myopathy and LGMD2J. Neurology 2005; 64:636-642.

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