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

Written and reviewed by Dr Ibrahim Imam, Consultant Neurologist. Last reviewed .

Limb girdle muscular dystrophy type 2J (LGMD 2J). This is caused by mutations in the TTN (titin) gene on chromosome 2q31.

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

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Unusual phenotypes

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Other titin phenotypes

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Investigations

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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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