Congenital muscular dystrophies: a brief review
E Bertini, A D'Amico, F Gualandi, S Petrini - Seminars in pediatric neurology, 2011 - Elsevier
Congenital muscular dystrophies (CMDs) are clinically and genetically heterogeneous
neuromuscular disorders with onset at birth or in infancy in which the muscle biopsy is
compatible with a dystrophic myopathy. In the past 10 years, knowledge of neuromuscular
disorders has dramatically increased, particularly with the exponential boost of disclosing
the genetic background of CMDs. This review will highlight the clinical description of the
most important forms of CMD, paying particular attention to the main keys for diagnostic …
neuromuscular disorders with onset at birth or in infancy in which the muscle biopsy is
compatible with a dystrophic myopathy. In the past 10 years, knowledge of neuromuscular
disorders has dramatically increased, particularly with the exponential boost of disclosing
the genetic background of CMDs. This review will highlight the clinical description of the
most important forms of CMD, paying particular attention to the main keys for diagnostic …