ARSACSAutosomal Recessive Spastic Ataxia of Charlevoix-Saguenay
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Interestingly, 1 of these alleles corresponded to a previously reported CNV (27,28), which was also detected in other samples analyzed in this study together with SACS point mutations, producing autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) (29, 30, 35).
Homozygous contiguous gene deletion of 13q12 causing LGMD2C and ARSACS in the same patient.
[9] Nonstandard abbreviations: NMD, neuromuscular disorder; aCGH, array-based comparative genomic hybridization; CNV, copy-number variation; LGMD2C, limb-girdle muscular dystrophy type 2C; MLPA, multiplex ligation-dependent probe amplification; AOA2, ataxia with oculomotor apraxia type 2; ARSACS, autosomal recessive spastic ataxia of Charlevoix-Saguenay.