Disorders

Distal Myopathy 2

Synonym(s): Vocal Cord and Pharyngeal Dysfunction with Distal Myopathy

Gene	Locus	Protein
MATR3	5q31.3	Matrin-3

Laboratory	Test Method	Prenatal	Carrier *
Centogene AG, Rare Disease Company - Rostock, Germany
HIBM Research Group - Reseda, CA, USA
PreventionGenetics, Clinical DNA Testing and DNA Banking - Marshfield, WI, 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.