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Duchenne muscular dystrophy in a 4-year-old girl due to heterozygous frame shift deletion of the dystrophin gene and skewed X-inactivation.

Standard

Duchenne muscular dystrophy in a 4-year-old girl due to heterozygous frame shift deletion of the dystrophin gene and skewed X-inactivation. / Schänzer, A; Rau, Isabella; Kress, W; Köhler, A; Neubauer, B; Hahn, A.

in: KLIN PADIATR, Jahrgang 224, Nr. 4, 4, 2012, S. 256-258.

Publikationen: SCORING: Beitrag in Fachzeitschrift/Zeitung › SCORING: Zeitschriftenaufsatz › Forschung › Begutachtung

Harvard

Schänzer, A, Rau, I, Kress, W, Köhler, A, Neubauer, B & Hahn, A 2012, 'Duchenne muscular dystrophy in a 4-year-old girl due to heterozygous frame shift deletion of the dystrophin gene and skewed X-inactivation.', KLIN PADIATR, Jg. 224, Nr. 4, 4, S. 256-258. <http://www.ncbi.nlm.nih.gov/pubmed/22549471?dopt=Citation>

APA

Schänzer, A., Rau, I., Kress, W., Köhler, A., Neubauer, B., & Hahn, A. (2012). Duchenne muscular dystrophy in a 4-year-old girl due to heterozygous frame shift deletion of the dystrophin gene and skewed X-inactivation. KLIN PADIATR, 224(4), 256-258. [4]. http://www.ncbi.nlm.nih.gov/pubmed/22549471?dopt=Citation

Vancouver

Schänzer A, Rau I, Kress W, Köhler A, Neubauer B, Hahn A. Duchenne muscular dystrophy in a 4-year-old girl due to heterozygous frame shift deletion of the dystrophin gene and skewed X-inactivation. KLIN PADIATR. 2012;224(4):256-258. 4.

Bibtex

@article{6279661a9f564f76a617db20df63a1d4,
title = "Duchenne muscular dystrophy in a 4-year-old girl due to heterozygous frame shift deletion of the dystrophin gene and skewed X-inactivation.",
abstract = "X-linked recessive diseases affect males, whereas female carriers are generally asymptomatic.We report on a 4-year-old girl who presented with a classical phenotype of Duchenne Muscular Dystrophy (DMD), a severe X-linked recessive type of muscular dystrophy affecting boys in early childhood.A thorough diagnostic work-up revealed that this resulted from a heterozygous out-of frame deletion in the DMD-gene in combination with an X-inactivation ratio of <10:90 in blood leukocytes and muscle.The case exemplifies that a skewed X-inactivation pattern has to be taken into account as mechanism causing clinical symptoms in female carriers of X-linked recessive disorders.",
keywords = "Biopsy, Humans, Female, Child, Preschool, Polymerase Chain Reaction, Exons/genetics, Creatine Kinase/blood, Dystrophin/*genetics, Frameshift Mutation/*genetics, Genes, Recessive/genetics, *Heterozygote Detection, Leukocytes/metabolism, Muscle, Skeletal/metabolism/pathology, Sarcoglycanopathies/diagnosis/*genetics, X Chromosome Inactivation/*genetics, Biopsy, Humans, Female, Child, Preschool, Polymerase Chain Reaction, Exons/genetics, Creatine Kinase/blood, Dystrophin/*genetics, Frameshift Mutation/*genetics, Genes, Recessive/genetics, *Heterozygote Detection, Leukocytes/metabolism, Muscle, Skeletal/metabolism/pathology, Sarcoglycanopathies/diagnosis/*genetics, X Chromosome Inactivation/*genetics",
author = "A Sch{\"a}nzer and Isabella Rau and W Kress and A K{\"o}hler and B Neubauer and A Hahn",
year = "2012",
language = "English",
volume = "224",
pages = "256--258",
journal = "KLIN PADIATR",
issn = "0300-8630",
publisher = "Georg Thieme Verlag KG",
number = "4",

}

RIS

TY - JOUR

T1 - Duchenne muscular dystrophy in a 4-year-old girl due to heterozygous frame shift deletion of the dystrophin gene and skewed X-inactivation.

AU - Schänzer, A

AU - Rau, Isabella

AU - Kress, W

AU - Köhler, A

AU - Neubauer, B

AU - Hahn, A

PY - 2012

Y1 - 2012

N2 - X-linked recessive diseases affect males, whereas female carriers are generally asymptomatic.We report on a 4-year-old girl who presented with a classical phenotype of Duchenne Muscular Dystrophy (DMD), a severe X-linked recessive type of muscular dystrophy affecting boys in early childhood.A thorough diagnostic work-up revealed that this resulted from a heterozygous out-of frame deletion in the DMD-gene in combination with an X-inactivation ratio of <10:90 in blood leukocytes and muscle.The case exemplifies that a skewed X-inactivation pattern has to be taken into account as mechanism causing clinical symptoms in female carriers of X-linked recessive disorders.

AB - X-linked recessive diseases affect males, whereas female carriers are generally asymptomatic.We report on a 4-year-old girl who presented with a classical phenotype of Duchenne Muscular Dystrophy (DMD), a severe X-linked recessive type of muscular dystrophy affecting boys in early childhood.A thorough diagnostic work-up revealed that this resulted from a heterozygous out-of frame deletion in the DMD-gene in combination with an X-inactivation ratio of <10:90 in blood leukocytes and muscle.The case exemplifies that a skewed X-inactivation pattern has to be taken into account as mechanism causing clinical symptoms in female carriers of X-linked recessive disorders.

KW - Biopsy

KW - Humans

KW - Female

KW - Child, Preschool

KW - Polymerase Chain Reaction

KW - Exons/genetics

KW - Creatine Kinase/blood

KW - Dystrophin/genetics

KW - Frameshift Mutation/genetics

KW - Genes, Recessive/genetics

KW - Heterozygote Detection

KW - Leukocytes/metabolism

KW - Muscle, Skeletal/metabolism/pathology

KW - Sarcoglycanopathies/diagnosis/genetics

KW - X Chromosome Inactivation/genetics

KW - Biopsy

KW - Humans

KW - Female

KW - Child, Preschool

KW - Polymerase Chain Reaction

KW - Exons/genetics

KW - Creatine Kinase/blood

KW - Dystrophin/genetics

KW - Frameshift Mutation/genetics

KW - Genes, Recessive/genetics

KW - Heterozygote Detection

KW - Leukocytes/metabolism

KW - Muscle, Skeletal/metabolism/pathology

KW - Sarcoglycanopathies/diagnosis/genetics

KW - X Chromosome Inactivation/genetics

M3 - SCORING: Journal article

VL - 224

SP - 256

EP - 258

JO - KLIN PADIATR

JF - KLIN PADIATR

SN - 0300-8630

IS - 4

M1 - 4

ER -