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

D. R. Duncan; P. B. Kang; J. C. Rabbat; C. E. Briggs; H. G.W. Lidov; B. T. Darras; L. M. Kunkel

doi:10.1212/01.wnl.0000223600.78363.dd

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

D. R. Duncan, P. B. Kang, J. C. Rabbat, C. E. Briggs, H. G.W. Lidov, B. T. Darras, L. M. Kunkel

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11 Scopus citations

Abstract

The authors present three unrelated North American patients with limb-girdle muscular dystrophy type 2C. Muscle biopsies suggested γ-sarcoglycan deficiencies for all three patients. Patients 1 and 2 had a novel homozygous E263K missense mutation on exon 8 of γ-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.

Original language	English (US)
Pages (from-to)	167-169
Number of pages	3
Journal	Neurology
Volume	67
Issue number	1
DOIs	https://doi.org/10.1212/01.wnl.0000223600.78363.dd
State	Published - Jul 2006
Externally published	Yes

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title = "A novel mutation in two families with limb-girdle muscular dystrophy type 2C",

abstract = "The authors present three unrelated North American patients with limb-girdle muscular dystrophy type 2C. Muscle biopsies suggested γ-sarcoglycan deficiencies for all three patients. Patients 1 and 2 had a novel homozygous E263K missense mutation on exon 8 of γ-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.",

author = "Duncan, {D. R.} and Kang, {P. B.} and Rabbat, {J. C.} and Briggs, {C. E.} and Lidov, {H. G.W.} and Darras, {B. T.} and Kunkel, {L. M.}",

year = "2006",

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AU - Duncan, D. R.

AU - Kang, P. B.

AU - Rabbat, J. C.

AU - Briggs, C. E.

AU - Lidov, H. G.W.

AU - Darras, B. T.

AU - Kunkel, L. M.

PY - 2006/7

Y1 - 2006/7

N2 - The authors present three unrelated North American patients with limb-girdle muscular dystrophy type 2C. Muscle biopsies suggested γ-sarcoglycan deficiencies for all three patients. Patients 1 and 2 had a novel homozygous E263K missense mutation on exon 8 of γ-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.

AB - The authors present three unrelated North American patients with limb-girdle muscular dystrophy type 2C. Muscle biopsies suggested γ-sarcoglycan deficiencies for all three patients. Patients 1 and 2 had a novel homozygous E263K missense mutation on exon 8 of γ-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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A novel mutation in two families with limb-girdle muscular dystrophy type 2C

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