Disorders


 

Congenital Neuromuscular Disease with Uniform Type 1 Fiber


Synonym(s): CNMDU1

 

OMIM

GeneLocusProtein
RYR119q13.1Ryanodine receptor 1

Laboratory Test Method Prenatal Carrier *
Medical Neurogenetics - Atlanta, GA, USA  
Radboud University Nijmegen Medical Centre, Genome Diagnostics Nijmegen - Nijmegen, Netherlands  
University of Chicago, Genetic Services Laboratory - Chicago, IL, USA  

* 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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