Three novel recessive mutations in LAMA2, SYNE1, and TTN are identified in a single case with congenital muscular dystrophy


Congenital muscular dystrophies (CMD) are a group of neuro-muscular disorders characterized by severe muscle hypotonia at birth or within the first years of life. Symptoms include delayed motor milestones, with generalized hypotonia, respiratory and swallowing difficulties, and muscle weakness. Causal mutations have been identified in at least a dozen of the genes as summarized in recent reviews [1,2], including three genes (COL6A1, COL6A2, COL6A3) involving collagen VI related dystrophies, 14 genes (FKRP, FKTN, POMT1, POMT2, POMGnT1, LARGE, ISPD, GTDC2, DAG1,TMEM5, B3GALNT2, B3GNT1, GMPPB, SGK196) involving α-dystroglycan related dystrophy, four genes (DPM1, DPM2, DPM3, DOLK) involving alpha dystroglycanopathy (i.e., α-DGpathy), the SELENON gene in the rigid spine CMD, the RYR1 gene in multiple neuromuscular-related disorders, the LMNA gene in 12 different conditions (MIM 150330), and the LAMA2 gene (Laminin Subunit Alpha 2, MIM 156225), which cause congenital merosin-deficient muscular dystrophy (MIM 607855) with various impaired motor abilities and mental development.


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