Molecular diagnosis of myopathies

Andrew Gomez-Vargas; Steven K Baker

doi:10.1016/j.rdc.2011.01.009

Molecular diagnosis of myopathies

Rheum Dis Clin North Am. 2011 May;37(2):269-87, vii. doi: 10.1016/j.rdc.2011.01.009.

Authors

Andrew Gomez-Vargas¹, Steven K Baker

Affiliation

¹ Department of Medicine, McMaster University, 1200 Main Street West, HSC 2H22, Hamilton, ON, Canada L8 N 3Z5.

PMID: 21444025
DOI: 10.1016/j.rdc.2011.01.009

Abstract

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.

Publication types

Review

MeSH terms

Early Diagnosis
Humans
Molecular Diagnostic Techniques*
Muscle Weakness / diagnosis*
Muscle Weakness / genetics
Muscle Weakness / physiopathology
Neuromuscular Diseases / diagnosis*
Neuromuscular Diseases / genetics
Neuromuscular Diseases / physiopathology
Oligonucleotide Array Sequence Analysis
Phenotype
Polymerase Chain Reaction
Polymorphism, Restriction Fragment Length