Disorders

X-Linked Centronuclear Myopathy

Synonym(s): XLCNM, X-Linked Myotubular Myopathy, XLMTM

Gene	Locus	Protein
MTM1	Xq27.3-q28	Myotubularin

Laboratory	Test Method	Prenatal	Carrier *
2nd School of Medicine Charles University - Department of Child Neurology, DNA Laboratory - Praha 5, Czech Republic	• Sequence analysis of select exons
Academic Medical Center, Department of Genome Analysis and Laboratory for Neurogenetics - Amsterdam, Netherlands
All Children's Hospital, Clinical Molecular Genetics Laboratory - St. Petersburg, FL, USA
Centogene AG, Rare Disease Company - Rostock, Germany
Children's University Hospital, Human Genetics - Berne, Switzerland	• Mutation scanning of the entire coding region
CHRU - Nouvel Hopital Civil, Laboratoire Diagnostic Genetique - Strasbourg, France	• Linkage analysis
Emory University School of Medicine, Emory Molecular Genetics Laboratory - Atlanta, GA, USA
GENETAQ, Molecular Genetics Centre - Malaga, Spain
Greenwood Genetic Center, Molecular Diagnostic Laboratory - Greenwood, SC, USA
GSTS Pathology, DNA Laboratory - London, Great Britain
Liverpool Women's Hospital, Mersey Regional Molecular Genetics Laboratory - Liverpool, Great Britain
Medical Neurogenetics - Atlanta, GA, USA
MGZ München, Medizinisch Genetisches Zentrum München - München, Germany
PreventionGenetics, Clinical DNA Testing and DNA Banking - Marshfield, WI, USA
Radboud University Nijmegen Medical Centre, Genome Diagnostics Nijmegen - Nijmegen, Netherlands
Tor Vergata University of Roma, School of Medicine, Servizio di Genetica Medica - Rome, Italy	• Linkage analysis
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.