Disease A B C D E F G H I J K L M N O P Q R S T U V W X Y Z [0-9]
Gene A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

Muscular dystrophy, limb-girdle, type 2C

OMIM:253700
Mode of inheritance:Autosomal recessive
Disease classification:Diseases of the nervous system


Mutations

Gene SymbolSGCG
Reference transcriptNM_000231.2
DNA Changec.525delT
A.A. Changep.Phe175LeufsX20
Exon/Intronexon 6
Mutation Typedeletion
ReferenceEL KERCH F, SBITI A, AZIBI K, LETURCQ F.The gamma-sarcoglycanopathy by mutation del 521T in Morocco. About 20 cases
Revue maghrebine de pediatrie. 2001 ;11(4)189-193

Gene SymbolSGCG
Reference transcriptNM_000231.2
DNA Changec.93G>A
A.A. Changep.Trp31Stop
Exon/Intronexon 2
Mutation Typesubstitution
ReferenceVermeer S, Verrips A, Willemsen MA, ter Laak HJ, Ginjaar IB, Hamel BC.Novel mutations in three patients with LGMD2C with phenotypic differences.
Pediatr Neurol. 2004 Apr;30(4):291-4.

Gene SymbolSGCG
Reference transcriptNM_000231.2
DNA Changec.525delT
A.A. Changep.Phe175LeufsX20
Exon/Intronexon 6
Mutation Typedeletion
ReferenceEl Kerch F, Ratbi I, Sbiti A, Laarabi FZ, Barkat A, Sefiani A.Carrier frequency of the c.525delT mutation in the SGCG gene and estimated prevalence of limb girdle muscular dystrophy type 2C among the Moroccan population.
Genet Test Mol Biomarkers. 2014 Apr;18(4):253-6.