Molecular Diagnosis of Myopathies - 02/08/11
Corresponding author.Résumé |
Neuromuscular diseases (NMD) constitute a group of phenotypically and genetically heterogeneous disorders, characterized by (progressive) weakness and atrophy of proximal and/or distal muscles. The objective of molecular testing is to confirm the pathogenicity of a relevant sequence variation by correlating an individual's phenotype with what is expected in a given condition. Within the last two decades the application of molecular genetic strategies has led to a delineation of subgroups of clinically indistinguishable NMDs and has disclosed marked disease overlap. The expanding number of molecular defined NMDs requires new strategies to classify overlapping and clinical indistinguishable phenotypes.
Le texte complet de cet article est disponible en PDF.Keywords : Restriction fragment length polymorphism, Polymerase chain reaction, Allele specific oligonucleotide analysis
Plan
| The authors have nothing to disclose. |
Vol 37 - N° 2
P. 269-287 - mai 2011 Retour au numéro
Article précédent
- A Primer on Electrophysiologic Studies in Myopathy
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- Brent T. Harris, Carrie A. Mohila
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