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eRAM

encyclopedia of Rare Disease Annotation for Precision Medicine




Disease glycogen storage disease type v
Comorbidity C0026848|myopathy
Sentences 4
PubMedID- 24216972 Severe axial myopathy in mcardle disease.
PubMedID- 23337261 Mcardle's disease (glycogen storage disease type v) is a rare autosomal recessive metabolic myopathy due to myophosphorylase deficiency.
PubMedID- 23434346 Mcardle disease (md) is a metabolic myopathy due to myophosphorylase deficiency.
PubMedID- 23906480 Mcardle disease (md) is a metabolic myopathy due to myophosphorylase deficiency, which leads to a severe limitation in the rate of adenosine triphosphate (atp) resynthesis.

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