Duchenne muscular dystrophy in a 4-year-old girl due to heterozygous frame shift deletion of the dystrophin gene and skewed X-inactivation.
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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. / Schänzer, A; Rau, Isabella; Kress, W; Köhler, A; Neubauer, B; Hahn, A.
In: KLIN PADIATR, Vol. 224, No. 4, 4, 2012, p. 256-258.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
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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 -