Disorders


 

TNNT1-Related Nemaline Myopathy


Synonym(s): Amish Nemaline Myopathy, NEM 5, NEM5, Nemaline Myopathy 5

 

OMIM

GeneLocusProtein
TNNT119q13.4Troponin T

Laboratory Test Method Prenatal Carrier *
Centogene AG, Rare Disease Company - Rostock, Germany  
Centre Hospitalier Universitaire de Grenoble, Biochimie Genetique et Molculaire - Grenoble, France• Linkage analysis
  
Emory University School of Medicine, Emory Molecular Genetics Laboratory - Atlanta, GA, USA  
MGZ München, Medizinisch Genetisches Zentrum München - München, Germany  
PreventionGenetics, Clinical DNA Testing and DNA Banking - Marshfield, WI, USA  
Ruhr University, Human Genetics - Bochum, Germany  
University Medical Center Utrecht, Genome Diagnostics Laboratory - Utrecht, Netherlands  

* 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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