Titinopathies and extension of the M-line mutation phenotype beyond distal myopathy and LGMD2J

@article{Udd2005TitinopathiesAE,
  title={Titinopathies and extension of the M-line mutation phenotype beyond distal myopathy and LGMD2J},
  author={Bjarne Udd and Anna Vihola and Jaakko Sarparanta and Isabelle Richard and Peter Hackman},
  journal={Neurology},
  year={2005},
  volume={64},
  pages={636 - 642}
}
Objective: To determine the phenotype variability associated with the specific C-terminal M-line titin mutation known to cause autosomal dominant distal myopathy, tibial muscular dystrophy (TMD; MIM 600334), and limb girdle muscular dystrophy 2J (LGMD2J). Methods: Three hundred eighty-six individuals were genotyped for the Finnish founder mutation in titin (FINmaj) causing TMD/LGMD2J. Results: Two hundred seven patients were heterozygous for the mutation. Among these patients, 189 (91%) had a… 

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