eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| Disease | neutropenia |
| Comorbidity | C0026848|myopathy |
| Sentences | 4 |
| PubMedID- 20817456 | Sporadic centronuclear myopathy with muscle pseudohypertrophy, neutropenia, and necklace fibers due to a dnm2 mutation. |
| PubMedID- 20882351 | The 3-mga-uria type ii or barth syndrome is an x-linked recessive cardiomyopathy with (cyclic) neutropenia, skeletal myopathy, and mitochondrial respiratory chain dysfunction first described in a large dutch family some 30 years ago (barth et al. |
| PubMedID- 21247764 | Sporadic centronuclear myopathy with muscle pseudohypertrophy, neutropenia, and necklace fibres due to a dnm2 mutation. |
| PubMedID- 23045169 | Barth syndrome (bths); mim accession # 302060) is a rare x-linked recessive cardioskeletal mitochondrial myopathy with features of cardiomyopathy, neutropenia, and growth abnormalities. |
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