eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| Disease | myopathy |
| Comorbidity | C0026850|muscular dystrophy |
| Sentences | 12 |
| PubMedID- 24011652 | We selected patients with unclassified lgdm (limb-girdle muscular dystrophy), idiopathic elevation of creatine kinase, unexplained myopathy on muscle biopsy, unexplained restrictive respiratory insufficiency or unspecified myopathy for screening. |
| PubMedID- 22825607 | Calpain-3 profile was also analyzed in a blinded study to screen for potential lgmd2a samples from cases of neuromuscular disorders (nmds) with potential muscular dystrophy. |
| PubMedID- 25326393 | Facioscapulohumeral muscular dystrophy (fshd) is one of the most common neuromuscular disorders. |
| PubMedID- 25096430 | Background: duchenne muscular dystrophy is one of the most severe muscle diseases to affect children. |
| PubMedID- 24600397 | Given the skeletal myopathy that develops with muscular dystrophy, it is logical to suggest that the function of this reflex might also be abnormal with the pathogenesis of disease. |
| PubMedID- 20374639 | A number of motor impairments and muscular disorders, including muscular dystrophy, hypotonia, and muscle weakness, are observed in individuals with asd [50,99,100]. |
| PubMedID- 22918531 | Inhibition of tgfbeta signaling by losartan treatment greatly improved the phenotype of myopathies associated with laminin-alpha2-deficient congenital muscular dystrophy. |
| PubMedID- 21424749 | Furthermore, facioscapulohumeral muscular dystrophy with isolated axial myopathy has also been reported [19]. |
| PubMedID- 24706943 | The family was counselled that their condition was likely a form of autosomal dominant muscular dystrophy, with bethlem myopathy and emery-dreifuss muscular dystrophy included in the differential diagnosis. |
| PubMedID- 24755310 | Rvs are not disease-specific, and are often seen in adult-onset chronic myopathies such as inclusion body myositis, distal myopathy with rvs, oculopharyngeal muscular dystrophy, and myofibrillar myopathies. |
| PubMedID- 20658601 | Facioscapulohumeral muscular dystrophy presenting with isolated axial myopathy and bent spine syndrome. |
| PubMedID- 23142638 | Scapuloperoneal muscular dystrophy phenotype due to trim32-sarcotubular myopathy in south dakota hutterite. |
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