Journal article
Molecular Diagnosis of Myopathies
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 …
Authors
Gomez-Vargas A; Baker SK
Journal
Rheumatic Disease Clinics of North America, Vol. 37, No. 2, pp. 269–287
Publisher
Elsevier
Publication Date
5 2011
DOI
10.1016/j.rdc.2011.01.009
ISSN
0889-857X