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Small fiber involvement is independent from clinical pain in late-onset Pompe disease
Download from doi.orgMutations in HID1 Cause Syndromic Infantile Encephalopathy and Hypopituitarism
UploadThe p.Ala2430Val mutation in filamin C causes a "hypertrophic myofibrillar cardiomyopathy"
UploadAn integrative correlation of myopathology, phenotype and genotype in late onset Pompe disease
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