Article

The distal myopathies are a heterogeneous group of genetic disorders defined by a
predominant distal weakness at onset or throughout the evolution of the disease
and by pathological data supporting a myopathic process. The number of genes
associated with distal myopathies continues to increase. Fourteen distinct distal
myopathies are currently defined by their gene and causative mutations, compared
to just five entities delineated on clinical grounds two decades ago. The known
proteins affected in the distal myopathies are of many types and include a
significant number of sarcomeric proteins. The useful indicators for clinicians
to direct towards a correct molecular diagnosis are the mode of inheritance, the
age at onset, the pattern of muscle involvement, the serum creatine kinase level
and the muscle pathology findings. This review gives an overview of the clinical
and genetic characteristics of the currently identified distal myopathies with
emphasis on some recent findings.
CI - Copyright (c) 2013. Published by Elsevier Masson SAS.

Langue : ANGLAIS