Myofibrillar and distal myopathies.
Rev Neurol (Paris)
; 172(10): 587-593, 2016 Oct.
Article
en En
| MEDLINE
| ID: mdl-27638134
ABSTRACT
Distal myopathies and myofibrillar myopathies are both rare subcategories of muscle diseases. Myofibrillar myopathies are genetically heterogeneous group of diseases characterized by distinctive histopathology of abnormal protein aggregations and myofibrillar disintegration. All genes causing myofibrillar myopathy encode proteins that either reside in or associate with the Z-disc. Distal myopathies are also genetically heterogeneous muscular dystrophies in which muscle weakness presents distally in the feet and/or hands. A subgroup of distal myopathies, desminopathy, distal myotilinopathy, ZASPopathy and alpha-B crystallin-mutated distal myopathy, belong to myofibrillar myopathies and show similar pathological changes in muscle biopsies. Common features of these diseases are dominant inheritance and adult-onset of symptoms starting in the feet and slowly progressing to encompass other muscle groups. Cardiomyopathy is not a common feature in distal MFM myopathies.
Palabras clave
Texto completo:
1
Colección:
01-internacional
Base de datos:
MEDLINE
Asunto principal:
Miopatías Distales
/
Miofibrillas
Límite:
Humans
Idioma:
En
Revista:
Rev Neurol (Paris)
Año:
2016
Tipo del documento:
Article