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

Araştırma sonucu: Dergiye katkı › Makale › bilirkişi

20 Alıntılar (Scopus)

Özet

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.

Orijinal dil	İngilizce
Sayfa (başlangıç-bitiş)	247-250
Sayfa sayısı	4
Dergi	Neuromuscular Disorders
Hacim	10
Basın numarası	4-5
DOI'lar	https://doi.org/10.1016/S0960-8966(00)00100-0
Yayın durumu	Yayınlandı - 1 Haz 2000

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10.1016/S0960-8966(00)00100-0

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title = "A homozygous nonsense mutation in δ-sarcoglycan exon 3 in a case of LGMD2F",

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.",

keywords = "Limb girdle muscular dystrophy, Sarcoglycanopathy, δ-Sarcoglycan",

author = "P. Din{\c c}er and B{\"o}nnemann, \{C. G.\} and \{Erdir Aker\}, {\"O} and Z. Ak{\c c}{\"o}ren and V. Nigro and Kunkel, \{L. M.\} and H. Topaloǧlu",

year = "2000",

month = jun,

day = "1",

doi = "10.1016/S0960-8966(00)00100-0",

language = "English",

volume = "10",

pages = "247--250",

journal = "Neuromuscular Disorders",

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publisher = "Elsevier Ltd",

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}

TY - JOUR

T1 - A homozygous nonsense mutation in δ-sarcoglycan exon 3 in a case of LGMD2F

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

UR - https://www.scopus.com/pages/publications/0343570016

UR - https://www.webofscience.com/api/gateway?GWVersion=2&SrcApp=performanshacettepe&SrcAuth=WosAPI&KeyUT=WOS:000087641400006&DestLinkType=FullRecord&DestApp=WOS_CPL

U2 - 10.1016/S0960-8966(00)00100-0

DO - 10.1016/S0960-8966(00)00100-0

M3 - Article

C2 - 10838250

AN - SCOPUS:0343570016

SN - 0960-8966

VL - 10

SP - 247

EP - 250

JO - Neuromuscular Disorders

JF - Neuromuscular Disorders

IS - 4-5

ER -

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

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