LGMD2C

LGMD2C

Abbreviation for:
limb-girdle muscular dystrophy, type 2C (see there)
References in periodicals archive ?
Myonexus' pipeline also includes MYO-102, a gene therapy candidate for LGMD2D (alpha-sarcoglycanopathy) currently completing a Phase 1/2a clinical trial, MYO-201, a gene therapy candidate for LGMD2B (dysferlinopathy) currently in Phase 1, MYO-103, a preclinical gene therapy candidate for LGMD2C (gamma-sarcoglycanopathy), and MYO-301, a preclinical gene therapy candidate for LGMD2L (anoctamin 5).
The 361 non-collagen VI-related myopathy cases included 166 cases of dystrophinopathies, 56 cases of inflammatory myopathy, 35 cases of neurogenic muscular atrophy, 33 cases of LGMD2B, 15 cases of congenital myopathy, 15 cases of LGMD2A, 13 cases of metabolic myopathy, 8 cases of LMNA-related myopathy, 7 cases of GNE myopathy, 5 cases of myotonic dystrophy, 3 cases of LGMD2D, 3 cases of LGMD2I, 1 case of LGMD2C, and 1 case of LGMD2Q.
Analysis with the Motor Chip revealed this individual to be compound heterozygous for 2 different wide deletions involving SGCG, which caused LGMD2C (34).
We also provided the molecular diagnosis of LGMD2C for patient no.
Homozygous contiguous gene deletion of 13q12 causing LGMD2C and ARSACS in the same patient.