ABSTRACT
Distal myopathies are a group of genetic, primary muscle diseases. Patients develop progressive weakness and atrophy of the muscles of forearm, hands, lower leg, or feet. Currently, over 20 different forms, presenting a variable age of onset, clinical presentation, disease progression, muscle involvement, and histological findings, are known. Some of them are dominant and some recessive. Different variants in the same gene are often associated with either dominant or recessive forms, although there is a lack of a comprehensive understanding of the genotype-phenotype correlations. This chapter provides a description of the clinicopathologic and genetic aspects of distal myopathies emphasizing known etiologic and pathophysiologic mechanisms.
Palabras clave
Texto completo:
1
Colección:
01-internacional
Base de datos:
MEDLINE
Asunto principal:
Miopatías Distales
Tipo de estudio:
Diagnostic_studies
Límite:
Humans
Idioma:
En
Revista:
Handb Clin Neurol
Año:
2023
Tipo del documento:
Article
País de afiliación:
Finlandia