Congenital muscular dystrophies: new aspects of an expanding group of disorders.
The congenital muscular dystrophies comprise a genetically and clinically heterogeneous group of disorders characterized by early onset of progressive muscle weakness and often involvement of other organ systems such as the brain and eyes. During the last decade, significant progress has been made to further characterize various forms of congenital muscular dystrophies based on their specific genetic and clinical appearance. This review represents an overview of the recent accomplishments as they relate to clinical, diagnostic, pathogenetic and therapeutic aspects of congenital muscular dystrophies.
Lisi
Matthew T
MT
McKusick-Nathans Institute of Genetic Medicine, Department of Pediatrics and Neurology, Johns Hopkins University School of Medicine, 600 N Wolfe Street, Blalock 1008 Baltimore, MD 21287, USA.
Cohn
Ronald D
RD
D000818:Animals; D006801:Humans; D009136:Muscular Dystrophies / Q000145:classification / Q000151:congenital* / Q000235:genetics* / Q000473:pathology