Point mutation and polymorphism in Duchenne/Becker Muscular Dystrophy (D/BMD) patients

Chaturvedi, Lakshmi S.; Mukherjee, Moumita; Srivastava, Sonal; Mittal, Rama Devi; Mittal, Balraj

doi:10.1038/emm.2001.41

Cited by 21 publications

(12 citation statements)

References 34 publications

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“…In these cases the diagnosis can be confirmed by immunohistochemical analysis of a muscle biopsy. Over the past few years, several deep intronic mutations have been described (Adachi, et al, 2003; Buzin, et al, 2005; Chaturvedi, et al, 2001; Fajkusova, et al, 2001; Hofstra, et al, 2004; Tuffery-Giraud, et al, 1999; van Essen, et al, 2003). Our targeted CGH array will allow for detection of these previously missed deep intronic deletions and duplications.…”

Section: Discussionmentioning

confidence: 99%

Microarray-based mutation detection in thedystrophingene

et al. 2008

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Section: Discussionmentioning

confidence: 99%

Microarray-based mutation detection in thedystrophingene

et al. 2008

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“…All the laboratory tests (EMG examination and CK estimation) confirmed DMD, although gene deletion analysis was negative in ten cases and this may be possibly due to point mutation. Point mutations are more difficult to detect due to the enormous size (2.4 Mb) of the gene and its large transcript (14 kb) (20,35). All positive and negative gene deletion DMD cases collectively demonstrated the presence of higher quantity of triglycerides, phospholipids, free cholesterol, cholesterol ester and total cholesterol as compared to healthy subjects.…”

Section: Discussionmentioning

confidence: 99%

High resolution NMR based analysis of serum lipids in Duchenne muscular dystrophy patients and its possible diagnostic significance

et al. 2009

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Proton NMR spectroscopic investigations on the lipid extract of the serum of 41 Duchenne muscular dystrophy (DMD) (age, mean +/- SD; 8.0 +/- 3.0 years) patients and 22 healthy subjects (age, mean +/- SD; 9.0 +/- 4.0 years) were performed in the northern Indian population. The concentration of triglycerides, phospholipids, free cholesterol, cholesterol esters and total cholesterol was significantly higher in DMD patients as compared to healthy subjects. Ratio of free-cholesterol to cholesterol-esters was also significantly higher in DMD patients. Among the individual lipids, concentration of phospholipids was found to be consistently higher in DMD patients compared to healthy subjects, with a discriminatory index of 87.5%. The highest discriminatory index of 92% was found along with the ratio of PL (phospholipids) to CHOL (cholesterol), i.e. PL/CHOL. No significant quantitative difference was observed in the serum lipid constituents of positive and negative gene deletion cases of DMD. The inferences drawn from this study may provide the possibility of the diagnostic importance for DMD, especially in cases where genetic analysis fails to provide the diagnosis.

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“…[3] Among these sub-exonic mutation sequences, nonsense mutations account for 34%, frameshifts for 33%, splice site mutations for 29%, and missense mutations for 4%. [4]…”

Section: Introductionmentioning

confidence: 99%

Utility of MLPA in mutation analysis and carrier detection for Duchenne muscular dystrophy

Verma¹,

Dalal²,

Mittal³

et al. 2012

Indian J Hum Genet

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CONTEXT:Multiplex ligation probe amplification (MLPA) is a new technique to identify deletions and duplications and can evaluate all 79 exons in dystrophin gene in patients with Duchenne muscular dystrophy (DMD). Being semi-quantitative, MLPA is also effective in detecting duplications and carrier testing of females; both of which cannot be done using multiplex PCR. It has found applications in diagnostics of many genetic disorders.AIM:To study the utility of MLPA in diagnosis and carrier detection for DMD.MATERIALS AND METHODS:Mutation analysis and carrier detection was done by multiplex PCR and MLPA and the results were compared.RESULTS AND CONCLUSIONS:We present data showing utility of MLPA in identifying mutations in cases with DMD/BMD. In the present study using MLPA, we identified mutations in additional 5.6% cases of DMD in whom multiplex PCR was not able to detect intragenic deletions. In addition, MLPA also correctly confirmed carrier status of two obligate carriers and revealed carrier status in 6 of 8 mothers of sporadic cases.

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Point mutation and polymorphism in Duchenne/Becker Muscular Dystrophy (D/BMD) patients

Cited by 21 publications

References 34 publications

Microarray-based mutation detection in thedystrophingene

Microarray-based mutation detection in thedystrophingene

High resolution NMR based analysis of serum lipids in Duchenne muscular dystrophy patients and its possible diagnostic significance

Utility of MLPA in mutation analysis and carrier detection for Duchenne muscular dystrophy

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