eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| Disease | myopathy |
| Comorbidity | C0026846|muscle atrophy |
| Sentences | 12 |
| PubMedID- 21860784 | Myositis and myopathy with muscle atrophy are seen in some thymoma mg patients [22]. |
| PubMedID- 22700071 | Muscle biopsy analysis showed unspecific mild muscle atrophy with myopathic changes found on electromyography. |
| PubMedID- 24083177 | For these reasons, decreased muscle igf-1 and increased muscle myostatin play a key role in glucocorticoid-induced muscle atrophy[6]another mechanism of glucocorticoid-induced myopathy is mitochondrial dysfunction. |
| PubMedID- 22923418 | Background: x-linked myopathy with postural muscle atrophy is a novel x-linked myopathy caused by mutations in the four-and-a-half lim domain 1 gene (fhl1). |
| PubMedID- 23075566 | Background/aims: muscle disuse can lead to muscle atrophy and impaired skeletal muscle function. |
| PubMedID- 20874719 | Five other fhl1 mutations were discovered to be causal for x-linked myopathy with postural muscle atrophy (xmpma), clinically characterized by the combined presentation of weakness and atrophy of postural muscles (scapuloperoneal weakness and bent spine) with a pseudoathletic phenotype where alternative muscle groups were hypertrophic [39]. |
| PubMedID- 22053194 | Mutations in the fhl1 gene are causative for several types of hereditary myopathies including x-linked myopathy with postural muscle atrophy (xmpma). |
| PubMedID- 25945103 | Ros play an important regulatory role in skeletal muscle atrophy: during periods of muscle disuse ros expression is increased by redox system disturbance [3]. |
| PubMedID- 25740800 | Critical illness myopathy (cim) is associated with severe muscle atrophy and fatigue in affected patients. |
| PubMedID- 22172421 | Important new characterizations include 4 distinct human myopathies: reducing body myopathy, x-linked myopathy with postural muscle atrophy, emery-dreifuss muscular dystrophy, and scapuloperoneal myopathy. |
| PubMedID- 22621901 | muscle atrophy is attributable to muscle disuse (immobilization, microgravity of space travel) or starvation and occurs in many chronic diseases (renal failure, diabetes, cancer cachexia, sepsis, and burn injury) and also in elderly patients without underlying disease (in which case it is termed sarcopenia; murton and greenhaff, 2009). |
| PubMedID- 21932316 | Fhl1 mutations cause emery-dreifuss muscular dystrophy (omim 310300), x-linked myopathy with postural muscle atrophy (xmpma, omim 300696), scapuloperoneal myopathy (omim 300695), or reducing body myopathy (omim 300717, 300718). |
Page: 1