Transcription-terminating mutation in telethonin causing autosomal recessive muscular dystrophy type 2G in a European patient

@article{Oliv2008TranscriptionterminatingMI,
  title={Transcription-terminating mutation in telethonin causing autosomal recessive muscular dystrophy type 2G in a European patient},
  author={Montse Oliv{\'e} and Alexey Shatunov and Laura Gonzalez and Olga Luc{\'i}a Carmona and Isidro Ferrer},
  journal={Neuromuscular Disorders},
  year={2008},
  volume={18},
  pages={929-933}
}
A 27-year-old woman of Moldavian origin presented at the age of 15 with progressive proximal limb weakness and painful cramps in her calf muscles. Clinical examination revealed prominent muscle weakness in proximal muscles of the lower extremities and distal anterior compartment of legs, and mild weakness in shoulder girdle muscles. In addition, she had marked calf hypertrophy, muscle atrophy involving the anterior and posterior compartments of the thighs, and the distal anterior compartment of… CONTINUE READING
BETA

Citations

Publications citing this paper.
SHOWING 1-10 OF 23 CITATIONS

Other limb-girdle muscular dystrophies.

  • Handbook of clinical neurology
  • 2011
VIEW 4 EXCERPTS
CITES BACKGROUND
HIGHLY INFLUENCED

Muscle Phenotypic Variability in Limb Girdle Muscular Dystrophy 2 G

  • Journal of Molecular Neuroscience
  • 2013
VIEW 8 EXCERPTS
CITES BACKGROUND
HIGHLY INFLUENCED

Cardiac Myocytes and Mechanosensation

VIEW 8 EXCERPTS
CITES BACKGROUND
HIGHLY INFLUENCED

Distinct roles for telethonin N-versus C-terminus in sarcomere assembly and maintenance.

  • Developmental dynamics : an official publication of the American Association of Anatomists
  • 2010
VIEW 6 EXCERPTS
CITES BACKGROUND
HIGHLY INFLUENCED

Limb-girdle muscular dystrophy in a Portuguese patient caused by a mutation in the telethonin gene.

  • Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology
  • 2010
VIEW 6 EXCERPTS
CITES BACKGROUND & RESULTS
HIGHLY INFLUENCED

References

Publications referenced by this paper.
SHOWING 1-10 OF 18 REFERENCES

A mutation in telethonin alters Nav1.5 function.

  • The Journal of biological chemistry
  • 2008
VIEW 1 EXCERPT

Similar Papers

Loading similar papers…