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PedAM

Pediatric Disease Annotations & Medicines




Disease myopathy
Phenotype C0026850|muscular dystrophy
Sentences 7
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- 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- 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- 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- 23142638 Scapuloperoneal muscular dystrophy phenotype due to trim32-sarcotubular myopathy in south dakota hutterite.
PubMedID- 21424749 Furthermore, facioscapulohumeral muscular dystrophy with isolated axial myopathy has also been reported [19].

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