Bethlem myopathy / Ullrich / Myosclerosis Myopathy - UGent

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Full name:	Bethlem myopathy / Ullrich / Myosclerosis Myopathy - UGent
Laboratory:	Centrum Medische Genetica - UZ Gent
Created:	04 Jun 2019 - 13:59
Changed:	13 Dec 2022 - 15:41

Related Diseases

• Bethlem myopathy
• Congenital muscular dystrophy, Ullrich type
• Myosclerosis
• Primary dystonia, DYT27 type

Related Analytes

Gene	% of coding sequence sufficiently covered to detect heterozygous mutations	Copy number variation	Comments
COL12A1	100.00	1
COL6A1	100.00	1
COL6A2	100.00	1
COL6A3	100.00	1