Toward an objective measure of functional disability in dysferlinopathy.

@article{Woudt2016TowardAO,
  title={Toward an objective measure of functional disability in dysferlinopathy.},
  author={Lisanne Woudt and Gabriella A. Di Capua and Martin Krahn and Claudia Castiglioni and Ricardo Hughes and Mario Campero and Alejandra Trangulao and Patricio Gonzalez-Hormazabal and Ra{\'u}l Godoy-Herrera and Nicolas L{\'e}vy and Jon Andoni Urtizberea and Lilian Jara and Jorge A Bevilacqua},
  journal={Muscle & nerve},
  year={2016},
  volume={53 1},
  pages={
          49-57
        }
}
INTRODUCTION Understanding the natural history of dysferlinopathy is essential to design and quantify novel therapeutic protocols. Our aim in this study was to assess, clinically and functionally, a cohort of patients with dysferlinopathy, using validated scales. METHODS Thirty-one patients with genetically confirmed dysferlinopathy were assessed using the motor function measure (MFM), Modified Rankin Scale (MRS), Muscle Research Council (MRC) scale, serum creatine kinase (CK) assessment… CONTINUE READING

From This Paper

Figures, tables, and topics from this paper.

References

Publications referenced by this paper.
Showing 1-10 of 39 references

Dysferlinopathy in Chile: evidence of two novel mutations in the first reported cases.

Genetic testing and molecular biomarkers • 2009
View 6 Excerpts
Highly Influenced

Analysis of the DYSF mutational spectrum in a large cohort of patients

M Krahn, C B eroud, +3 authors G Bassez
Hum Mutat 2009;30:E345–375. 56 Dysferlinopathy in Chile MUSCLE & NERVE January • 2016
View 2 Excerpts

Genetic and epigenetic determinants of low dysferlin expression in monocytes

E Gallardo, A Ankala, +3 authors ND Luna
Hum Mutat 2014;35:990–997 • 2014
View 1 Excerpt

Clinical features and a mutation with late onset of limb girdle muscular dystrophy 2B

Journal of neurology, neurosurgery, and psychiatry • 2013
View 2 Excerpts

Long-term follow-up study on patients with Miyoshi phenotype of distal muscular dystrophy

WH Linssen, WG de Voogt, +3 authors JH Wokke
Eur J Neurol 2013;20:968–974 • 2013
View 1 Excerpt

Immunodetection analysis of muscular dystrophies in Mexico

B G omez-D ıaz, H Rosas-Vargas, +3 authors F Fern andez-Valverde
Muscle Nerve • 2012