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eRAM

encyclopedia of Rare Disease Annotation for Precision Medicine




Disease ptosis
Comorbidity C0026848|myopathy
Sentences 3
PubMedID- 24018892 Autosomal dominant progressive external ophthalmoplegia due to the p.r357p peo1 mutation is a late-onset ocular myopathy beginning with ptosis and progressing slowly.
PubMedID- 25215893 Conclusions: this patient represents a case of isolated ptosis consistent with acquired myopathy secondary to mitochondrial dysfunction without systemic manifestations otherwise seen in inherited mitochondrial disorders.
PubMedID- 26273216 She has a typical congenital myopathy elongated face with ptosis, in addition to high-arched palate and slight facial weakness (figure 1b).

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