A homozygous nonsense mutation in δ-sarcoglycan exon 3 in a case of LGMD2F

P. Dinçer; C. G. Bönnemann; Ö Erdir Aker; Z. Akçören; V. Nigro; L. M. Kunkel; H. Topaloǧlu

doi:10.1016/S0960-8966(00)00100-0

A homozygous nonsense mutation in δ-sarcoglycan exon 3 in a case of LGMD2F

P. Dinçer
, C. G. Bönnemann
, Ö Erdir Aker
, Z. Akçören
, V. Nigro
, L. M. Kunkel
, H. Topaloǧlu

University of Göttingen
Hacettepe University
University of Campania Luigi Vanvitelli
Howard Hughes Medical Institute

Research output: Contribution to journal › Article › peer-review

20 Citations (Scopus)

Abstract

We present the first Turkish family with δ-sarcoglycanopathy (LGMD2F). A novel truncating mutation (E93X) in exon 3 was identified in the gene. The index case showed a severe course and there was no cardiac involvement. LGMD2F seems to be rare in our population. (C) 2000 Elsevier Science B.V.

Original language	English
Pages (from-to)	247-250
Number of pages	4
Journal	Neuromuscular Disorders
Volume	10
Issue number	4-5
DOIs	https://doi.org/10.1016/S0960-8966(00)00100-0
Publication status	Published - 1 Jun 2000

Keywords

Limb girdle muscular dystrophy
Sarcoglycanopathy
δ-Sarcoglycan

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10.1016/S0960-8966(00)00100-0

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abstract = "We present the first Turkish family with δ-sarcoglycanopathy (LGMD2F). A novel truncating mutation (E93X) in exon 3 was identified in the gene. The index case showed a severe course and there was no cardiac involvement. LGMD2F seems to be rare in our population. (C) 2000 Elsevier Science B.V.",

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AU - Dinçer, P.

AU - Bönnemann, C. G.

AU - Erdir Aker, Ö

AU - Akçören, Z.

AU - Nigro, V.

AU - Kunkel, L. M.

AU - Topaloǧlu, H.

PY - 2000/6/1

Y1 - 2000/6/1

N2 - We present the first Turkish family with δ-sarcoglycanopathy (LGMD2F). A novel truncating mutation (E93X) in exon 3 was identified in the gene. The index case showed a severe course and there was no cardiac involvement. LGMD2F seems to be rare in our population. (C) 2000 Elsevier Science B.V.

AB - We present the first Turkish family with δ-sarcoglycanopathy (LGMD2F). A novel truncating mutation (E93X) in exon 3 was identified in the gene. The index case showed a severe course and there was no cardiac involvement. LGMD2F seems to be rare in our population. (C) 2000 Elsevier Science B.V.

KW - Limb girdle muscular dystrophy

KW - Sarcoglycanopathy

KW - δ-Sarcoglycan

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JF - Neuromuscular Disorders

IS - 4-5

ER -

A homozygous nonsense mutation in δ-sarcoglycan exon 3 in a case of LGMD2F

Abstract

Keywords

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