Disorders

Myotilinopathy

Synonym(s): Myotilin-Related Myopathy

Gene	Locus	Protein
MYOT	5q31.2	Myotilin

Laboratory	Test Method	Prenatal	Carrier *
Centogene AG, Rare Disease Company - Rostock, Germany
Emory University School of Medicine, Emory Molecular Genetics Laboratory - Atlanta, GA, USA
HIBM Research Group - Reseda, CA, USA
Klinikum Stuttgart, Institute of Clinical Genetics - Stuttgart, Germany
Medical Neurogenetics - Atlanta, GA, USA
Nationwide Children's Hospital, ChildLab Molecular Genetics Laboratory - Columbus, OH, USA
PreventionGenetics, Clinical DNA Testing and DNA Banking - Marshfield, WI, USA
Ruhr University, Human Genetics - Bochum, Germany
University Children's Hospital, Labor Molekulargenetik, Abteilung Medizinische Genetik - Basel, Switzerland	• Mutation scanning of select exons

^* 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.