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Summary
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 8 COXPD8
614096
OMIM = Online Medalian Inheritance of Men
319504
6p21.1
rare
autosomal recessive
mutation in the AARS2 gene
symptoms
cardiomyopathy
cardiomyopathy, hypertrophic
early death
failure to thrive
lactic acidosis
muscle weakness
onset, infancy
laboratory finding
EEG abnormalities -
Literature
Luo S,et al.Muscle pathology and whole-body MRI in a polyglucosan myopathy associated with a novel glycogenin-1 mutationNeuromuscul Disord2510780-7852015
Malfatti E,et al.A new muscle glycogen storage disease associated with glycogenin-1 deficiencyAnn Neurol766891-8982014