Disorders


 

Glycogen Storage Disease Type 0, Muscle


Synonym(s): GSD 0b, GSD0b, Muscle Glycogen Synthase Deficiency

 

OMIM

GeneLocusProtein
GYS119q13.3Glycogen [starch] synthase

Laboratory Test Method Prenatal Carrier *
Baylor College of Medicine, Medical Genetics Laboratories - Houston, TX, USA  
Centogene AG, Rare Disease Company - Rostock, Germany  
GSTS Pathology, DNA Laboratory - London, Great Britain  

* Carrier column is relevant to autosomal recessive and X-linked inheritance; column will be blank when it is not relevant (e.g. autosomal dominant inheritance, microdeletions/duplications) and/or is not offered by the lab.

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