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.