Congenital muscular dystrophies are a genetically and clinically heterogeneous group of disorders typically characterized by weakness and dystrophic pattern on muscle biopsy present at birth or during the first months of life. Affected infants typically appear ‘floppy’ and have more low muscle tone and poor spontaneous movements. The clinical course is broadly variable and can comprise the involvement of the brain and eyes. CMDs can be classified by the mutated gene, the respective protein’s localization and the protein’s predicted function.
Our Congenital Muscular Dystrophy Deletion/Duplication Panel includes all of the following 23 genes: CHKB, COL6A1, COL6A2, COL6A3, DAG1, DPM2, DPM3, FKRP, FKTN, GAA, POMGNT2 (GTDC2), ISPD, ITGA7, LAMA2, LARGE, LMNA, POMGNT1, POMT1, POMT2, RYR1, SEPN1, SYNE1, TMEM5.