Title : Longitudinal case study and phenotypic multimodal characterization of McArdle disease-linked retinopathy: insight into pathomechanisms.

Pub. Date : 2020 Feb

PMID : 32124677






1 Functional Relationships(s)
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1 PYGM expression pattern suggests a disease mechanism involving impaired glycogen metabolism both in the retinal pigment epithelium and in cone photoreceptors. Glycogen glycogen phosphorylase, muscle associated Homo sapiens