Disorders

Myosclerosis, Autosomal Recessive

Synonym(s): Congenital Myosclerosis of Lowenthal, Myosclerotic Myopathy

Gene	Locus	Protein
COL6A2	21q22.3	Collagen alpha-2(VI) chain

Laboratory	Test Method	Prenatal	Carrier *
Centogene AG, Rare Disease Company - Rostock, Germany
Emory University School of Medicine, Emory Molecular Genetics Laboratory - Atlanta, GA, 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.