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Fukutin mutations in non-Japanese patients with congenital muscular dystrophy: less severe mutations predominate in patients with a non-Walker-Warburg phenotype.

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Fukutin mutations in non-Japanese patients with congenital muscular dystrophy: less severe mutations predominate in patients with a non-Walker-Warburg phenotype. / Yis, Uluc; Uyanik, Gökhan; Heck, Pinar Bambul; Smitka, Martin; Nobel, Hannes; Ebinger, Friedrich; Dirik, Eray; Feng, Lucy; Kurul, Semra H; Brocke, Katja; Unalp, Aycan; Özer, Erdener; Cakmakci, Handan; Sewry, Caroline; Cirak, Sebahattin; Muntoni, Francesco; Hehr, Ute; Morris-Rosendahl, Deborah J.

In: NEUROMUSCULAR DISORD, Vol. 21, No. 1, 1, 2011, p. 20-30.

Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

Harvard

Yis, U, Uyanik, G, Heck, PB, Smitka, M, Nobel, H, Ebinger, F, Dirik, E, Feng, L, Kurul, SH, Brocke, K, Unalp, A, Özer, E, Cakmakci, H, Sewry, C, Cirak, S, Muntoni, F, Hehr, U & Morris-Rosendahl, DJ 2011, 'Fukutin mutations in non-Japanese patients with congenital muscular dystrophy: less severe mutations predominate in patients with a non-Walker-Warburg phenotype.', NEUROMUSCULAR DISORD, vol. 21, no. 1, 1, pp. 20-30. <http://www.ncbi.nlm.nih.gov/pubmed/20961758?dopt=Citation>

APA

Yis, U., Uyanik, G., Heck, P. B., Smitka, M., Nobel, H., Ebinger, F., Dirik, E., Feng, L., Kurul, S. H., Brocke, K., Unalp, A., Özer, E., Cakmakci, H., Sewry, C., Cirak, S., Muntoni, F., Hehr, U., & Morris-Rosendahl, D. J. (2011). Fukutin mutations in non-Japanese patients with congenital muscular dystrophy: less severe mutations predominate in patients with a non-Walker-Warburg phenotype. NEUROMUSCULAR DISORD, 21(1), 20-30. [1]. http://www.ncbi.nlm.nih.gov/pubmed/20961758?dopt=Citation

Vancouver

Yis U, Uyanik G, Heck PB, Smitka M, Nobel H, Ebinger F et al. Fukutin mutations in non-Japanese patients with congenital muscular dystrophy: less severe mutations predominate in patients with a non-Walker-Warburg phenotype. NEUROMUSCULAR DISORD. 2011;21(1):20-30. 1.

Bibtex

@article{b7e5d14126114f8488ea309d073dd54a,
title = "Fukutin mutations in non-Japanese patients with congenital muscular dystrophy: less severe mutations predominate in patients with a non-Walker-Warburg phenotype.",
abstract = "Six genes including POMT1, POMT2, POMGNT1, FKRP, Fukutin (FKTN) and LARGE encode proteins involved in the glycosylation of -dystroglycan ( -DG). Abnormal glycosylation of -DG is a common finding in Walker-Warburg syndrome (WWS), muscle-eye-brain disease (MEB), Fukuyama congenital muscular dystrophy (FCMD), congenital muscular dystrophy types 1C and 1D and some forms of autosomal recessive limb-girdle muscular dystrophy (LGMD2I, LGMD2K, LGMD2M), and is associated with mutations in the above genes. FCMD, caused by mutations in Fukutin (FKTN), is most frequent in Japan, but an increasing number of FKTN mutations are being reported outside of Japan. We describe four new patients with FKTN mutations and phenotypes ranging from: severe WWS in a Greek-Croatian patient, to congenital muscular dystrophy and cobblestone lissencephaly resembling MEB-FCMD in two Turkish patients, and limb-girdle muscular dystrophy and no mental retardation in a German patient. Four of the five different FKTN mutations have not been previously described.",
keywords = "Humans, Male, Female, Severity of Illness Index, Child, Preschool, Genotype, Infant, DNA Mutational Analysis, Membrane Proteins genetics, Phenotype, Muscle, Skeletal pathology, Magnetic Resonance Imaging methods, Mutation genetics, Cerebellum pathology, Exons genetics, Introns genetics, Muscular Dystrophies congenital, Neurologic Examination, Walker-Warburg Syndrome genetics, Humans, Male, Female, Severity of Illness Index, Child, Preschool, Genotype, Infant, DNA Mutational Analysis, Membrane Proteins genetics, Phenotype, Muscle, Skeletal pathology, Magnetic Resonance Imaging methods, Mutation genetics, Cerebellum pathology, Exons genetics, Introns genetics, Muscular Dystrophies congenital, Neurologic Examination, Walker-Warburg Syndrome genetics",
author = "Uluc Yis and G{\"o}khan Uyanik and Heck, {Pinar Bambul} and Martin Smitka and Hannes Nobel and Friedrich Ebinger and Eray Dirik and Lucy Feng and Kurul, {Semra H} and Katja Brocke and Aycan Unalp and Erdener {\"O}zer and Handan Cakmakci and Caroline Sewry and Sebahattin Cirak and Francesco Muntoni and Ute Hehr and Morris-Rosendahl, {Deborah J}",
year = "2011",
language = "Deutsch",
volume = "21",
pages = "20--30",
journal = "NEUROMUSCULAR DISORD",
issn = "0960-8966",
publisher = "Elsevier Limited",
number = "1",

}

RIS

TY - JOUR

T1 - Fukutin mutations in non-Japanese patients with congenital muscular dystrophy: less severe mutations predominate in patients with a non-Walker-Warburg phenotype.

AU - Yis, Uluc

AU - Uyanik, Gökhan

AU - Heck, Pinar Bambul

AU - Smitka, Martin

AU - Nobel, Hannes

AU - Ebinger, Friedrich

AU - Dirik, Eray

AU - Feng, Lucy

AU - Kurul, Semra H

AU - Brocke, Katja

AU - Unalp, Aycan

AU - Özer, Erdener

AU - Cakmakci, Handan

AU - Sewry, Caroline

AU - Cirak, Sebahattin

AU - Muntoni, Francesco

AU - Hehr, Ute

AU - Morris-Rosendahl, Deborah J

PY - 2011

Y1 - 2011

N2 - Six genes including POMT1, POMT2, POMGNT1, FKRP, Fukutin (FKTN) and LARGE encode proteins involved in the glycosylation of -dystroglycan ( -DG). Abnormal glycosylation of -DG is a common finding in Walker-Warburg syndrome (WWS), muscle-eye-brain disease (MEB), Fukuyama congenital muscular dystrophy (FCMD), congenital muscular dystrophy types 1C and 1D and some forms of autosomal recessive limb-girdle muscular dystrophy (LGMD2I, LGMD2K, LGMD2M), and is associated with mutations in the above genes. FCMD, caused by mutations in Fukutin (FKTN), is most frequent in Japan, but an increasing number of FKTN mutations are being reported outside of Japan. We describe four new patients with FKTN mutations and phenotypes ranging from: severe WWS in a Greek-Croatian patient, to congenital muscular dystrophy and cobblestone lissencephaly resembling MEB-FCMD in two Turkish patients, and limb-girdle muscular dystrophy and no mental retardation in a German patient. Four of the five different FKTN mutations have not been previously described.

AB - Six genes including POMT1, POMT2, POMGNT1, FKRP, Fukutin (FKTN) and LARGE encode proteins involved in the glycosylation of -dystroglycan ( -DG). Abnormal glycosylation of -DG is a common finding in Walker-Warburg syndrome (WWS), muscle-eye-brain disease (MEB), Fukuyama congenital muscular dystrophy (FCMD), congenital muscular dystrophy types 1C and 1D and some forms of autosomal recessive limb-girdle muscular dystrophy (LGMD2I, LGMD2K, LGMD2M), and is associated with mutations in the above genes. FCMD, caused by mutations in Fukutin (FKTN), is most frequent in Japan, but an increasing number of FKTN mutations are being reported outside of Japan. We describe four new patients with FKTN mutations and phenotypes ranging from: severe WWS in a Greek-Croatian patient, to congenital muscular dystrophy and cobblestone lissencephaly resembling MEB-FCMD in two Turkish patients, and limb-girdle muscular dystrophy and no mental retardation in a German patient. Four of the five different FKTN mutations have not been previously described.

KW - Humans

KW - Male

KW - Female

KW - Severity of Illness Index

KW - Child, Preschool

KW - Genotype

KW - Infant

KW - DNA Mutational Analysis

KW - Membrane Proteins genetics

KW - Phenotype

KW - Muscle, Skeletal pathology

KW - Magnetic Resonance Imaging methods

KW - Mutation genetics

KW - Cerebellum pathology

KW - Exons genetics

KW - Introns genetics

KW - Muscular Dystrophies congenital

KW - Neurologic Examination

KW - Walker-Warburg Syndrome genetics

KW - Humans

KW - Male

KW - Female

KW - Severity of Illness Index

KW - Child, Preschool

KW - Genotype

KW - Infant

KW - DNA Mutational Analysis

KW - Membrane Proteins genetics

KW - Phenotype

KW - Muscle, Skeletal pathology

KW - Magnetic Resonance Imaging methods

KW - Mutation genetics

KW - Cerebellum pathology

KW - Exons genetics

KW - Introns genetics

KW - Muscular Dystrophies congenital

KW - Neurologic Examination

KW - Walker-Warburg Syndrome genetics

M3 - SCORING: Zeitschriftenaufsatz

VL - 21

SP - 20

EP - 30

JO - NEUROMUSCULAR DISORD

JF - NEUROMUSCULAR DISORD

SN - 0960-8966

IS - 1

M1 - 1

ER -