|
KMID : 1035220160080010001
|
|
Korean Journal of Neuromuscular Disorders
2016 Volume.8 No. 1 p.1 ~ p.9
|
|
|
Clinical Approach to Inherited Muscular Disorders
|
|
Park Hyung-Jun
|
|
|
Abstract
|
|
|
|
Inherited muscular disorders (IMDs) are clinically and genetically heterogeneous groups of genetic disorders characterized by skeletal muscle weakness. These genetic and phenotypic complexities of IMDs make it difficult to identify the causative genes by a classical diagnostic approach, using clinical, pathological and genetic analysis in sequential steps. The recent advance in next generation sequencing makes it possible to sequence many genes cost-effectively and rapidly and has improved the molecular diagnosis of IMDs. However, comprehensive analysis of clinical phenotype is still important and required to identify pathogenic variants among large genomic data including non-pathogenic variants and sequencing errors. In this article, we provide a comprehensive review that integrates clinical manifestations and diagnostic strategy.
|
|
|
KEYWORD
|
|
|
Inherited muscular disorder, Muscular dystrophy, Phenotype, Diagnosis
|
|
|
FullTexts / Linksout information
|
|
|
|
|
|
Listed journal information
|
|
|
|