Pathophysiological concepts in the congenital myopathies: blurring the boundaries, sharpening the focus.

ABSTRACT: The congenital myopathies are a diverse group of genetic skeletal muscle diseases, which typically present at birth or in early infancy. There are multiple modes of inheritance and degrees of severity (ranging from foetal akinesia, through lethality in the newborn period to milder early and later onset cases). Classically, the congenital myopathies are defined by skeletal muscle dysfunction and a non-dystrophic muscle biopsy with the presence of one or more characteristic histological features. However, mutations in multiple different genes can cause the same pathology and mutations in the same gene can cause multiple different pathologies. This is becoming ever more apparent now that, with the increasing use of next generation sequencing, a genetic diagnosis is achieved for a greater numb

SUBMITTER: Ravenscroft G 

PROVIDER: S-EPMC4306824 | biostudies-literature | 2015 Feb

REPOSITORIES: biostudies-literature