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Neurology. 2006 Jul 11;67(1):167-9.

A novel mutation in two families with limb-girdle muscular dystrophy type 2C.

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  • 1Program in Genomics, the Howard Hughes Medical Institute, Boston, MA, USA.


The authors present three unrelated North American patients with limb-girdle muscular dystrophy type 2C. Muscle biopsies suggested gamma-sarcoglycan deficiencies for all three patients. Patients 1 and 2 had a novel homozygous E263K missense mutation on exon 8 of gamma-sarcoglycan (SGCG). Patient 3 had del521T on her maternal allele and an exon 6 deletion on her paternal allele. Patients 1 and 2 are of Puerto Rican ancestry, suggesting the presence of a founder mutation in that population.

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