Disorders


 

SYNE1-Related Emery-Dreifuss Muscular Dystrophy


Synonym(s): EDMD4, Emery-Dreifuss Muscular Dystrophy 4, SYNE1- Related Emery-Dreifuss-like Muscular Dystrophy

 

OMIM

GeneLocusProtein
SYNE16q24.2-q25.3Nesprin-1

Laboratory Test Method Prenatal Carrier *
Centogene AG, Rare Disease Company - Rostock, Germany• Sequence analysis of the entire coding region
 

* 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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