Serum creatine-kinase (CK) and pyruvate-kinase (PK) activities in Duchenne (DMD) as compared with Becker (BMD) muscular dystrophy

Zatz, Mayana; Rapaport, David; Vainzof, Mariz; Passos‐Bueno, Maria Rita; Bortolini, Eliete Rabbi; Pavanello, Rita de Cássia M.; Peres, Celeide Pinto Aguiar

doi:10.1016/0022-510x(91)90068-i

Cited by 138 publications

(111 citation statements)

References 22 publications

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“…To further characterize the dystrophic phenotype of miR-206-KO; mdx mice, we measured the levels of serum creatine kinase (CK), an indicator of skeletal muscle damage, and diagnostic marker for DMD patients (30). At 4 weeks of age, serum CK levels of mdx mice were elevated 14-fold compared with those of WT and miR-206-KO mice ( Figure 4B).…”

Section: Figurementioning

confidence: 99%

microRNA-206 promotes skeletal muscle regeneration and delays progression of Duchenne muscular dystrophy in mice

Liu¹,

Williams²,

Maxeiner³

et al. 2012

J. Clin. Invest.

302

292

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Section: Figurementioning

confidence: 99%

microRNA-206 promotes skeletal muscle regeneration and delays progression of Duchenne muscular dystrophy in mice

Liu¹,

Williams²,

Maxeiner³

et al. 2012

J. Clin. Invest.

302

292

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“…Typically, the CK levels in patients with DMD are at least ten-fold higher than normal (Zatz, 1991).…”

Section: Diagnosismentioning

confidence: 99%

Parental attitudes toward newborn screening for Duchenne/Becker muscular dystrophy and spinal muscular atrophy

et al. 2014

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Introduction: Disease inclusion in the newborn screening (NBS) panel should consider the opinions of those most affected by the outcome of screening. We assessed the level and factors that affect parent attitudes regarding NBS panel inclusion of Duchenne muscular dystrophy (DMD), Becker muscular dystrophy (BMD), and spinal muscular atrophy (SMA). Methods: The attitudes toward NBS for DMD, BMD, and SMA were surveyed and compared for 2 categories of parents, those with children affected with DMD, BMD, or SMA and expectant parents unselected for known family medical history. Results: The level of support for NBS for DMD, BMD, and SMA was 95.9% among parents of children with DMD, BMD, or SMA and 92.6% among expectant parents. Conclusions: There was strong support for NBS for DMD, BMD, and SMA in both groups of parents. Given advances in diagnostics and promising therapeutic approaches, discussion of inclusion in NBS should continue. Muscle Nerve 49: 822–828, 2014

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“…Given creatine kinase concentrations within the reference interval, a dystrophinopathy is unlikely in our patient (35 ). Because the contiguous deletion extends to include all or part of exon 75, this patient must be contrasted with other reported patients who have DMD or BMD caused by variations in this region of the gene (17,(27)(28)(29)(30)(31)(32)(33)(34).…”

Section: Discussionmentioning

confidence: 93%

A Multiplex Assay for the Detection and Mapping of Complex Glycerol Kinase Deficiency

et al. 2006

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Background: Glycerol kinase deficiency (GKD) is an X-linked recessive disorder that presents in both isolated and complex forms. The contiguous deletion that leads to GKD also commonly affects NR0B1 (DAX1), the gene associated with adrenal hypoplasia congenita, and DMD, the Duchenne muscular dystrophy gene. Molecular testing to delineate this deletion is expensive and has only limited availability. Methods: We designed a multiplex PCR assay for the detection and mapping of a contiguous deletion potentially affecting the IL1RAPL1, NR0B1, GK, and DMD genes in a 29-month-old male patient with GKD. Results: Multiplex PCR detected a contiguous deletion that involved the IL1RAPL1, NR0B1, GK, and DMD genes. Although the patient had a creatine kinase concentration within the reference interval, further mapping with PCR revealed that exon 74 was the last intact exon at the 3 end of the DMD gene. Conclusions: Multiplex PCR is an effective and inexpensive way to detect and map the contiguous deletion in cases of complex GKD. The extension of a deletion to include DMD exon 75 in a patient with a creatine kinase concentration within the reference interval suggests that this region of the gene may not be essential for protein function.

show abstract

Serum creatine-kinase (CK) and pyruvate-kinase (PK) activities in Duchenne (DMD) as compared with Becker (BMD) muscular dystrophy

Cited by 138 publications

References 22 publications

microRNA-206 promotes skeletal muscle regeneration and delays progression of Duchenne muscular dystrophy in mice

microRNA-206 promotes skeletal muscle regeneration and delays progression of Duchenne muscular dystrophy in mice

Parental attitudes toward newborn screening for Duchenne/Becker muscular dystrophy and spinal muscular atrophy

A Multiplex Assay for the Detection and Mapping of Complex Glycerol Kinase Deficiency

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