Disorders

Salih Myopathy

Synonym(s): Early-Onset Myopathy with Fatal Cardiomyopathy

Gene	Locus	Protein
TTN	2q31	Titin

Laboratory	Test Method	Prenatal	Carrier *
Centogene AG, Rare Disease Company - Rostock, Germany
PreventionGenetics, Clinical DNA Testing and DNA Banking - Marshfield, WI, USA	• Sequence analysis of select exons
University of Tampere, Neuromuscular Research Unit, Neurogenetics - Tampere, Finland	• Sequence analysis 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.