Journal ArticleDOI
Paternal inheritance or a de novo mutation in a Duchenne Muscular Dystrophy pedigree from South India.
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TLDR
A six year old boy presented with classical features of Duchenne Muscular Dystrophy and was confirmed by absent dystrophin staining on muscle biopsy and molecular genetics analysis by PCR of the exons showed a deletion in exon 45 in two affected individuals.About:
This article is published in Journal of the Neurological Sciences.The article was published on 2008-05-15. It has received 4 citations till now. The article focuses on the topics: Duchenne muscular dystrophy & Paternal Inheritance.read more
Citations
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Journal ArticleDOI
Duchenne muscular dystrophy: A clinical, histopathological and genetic study at a neurology tertiary care center in southern India
Bhairavi Swaminathan,GN Shubha,D Shubha,A. Ram Murthy,HB Kiran Kumar,S Shylashree,Narayanappa Gayathri,R Jamuna,Sanjeev Jain,Meera Purushottam,Atchayaram Nalini +10 more
TL;DR: In this study population in south India the deletion rate was 73% and were more frequent in the distal end exon and with the availability of genetic analysis, the first investigation of choice in DMD should be genetic studies and muscle biopsy should be considered only if the genetic tests are negative or not available.
Journal ArticleDOI
Bird's eye view of myopathies in India.
TL;DR: This issue of Neurology India is being presented with the idea of providing comprehensive current information to the reader as the authoritative reviews outline state-of-the-art information on various topics in myology.
Journal ArticleDOI
Mejoras en el diagnóstico de distrofinopatías: ¿Qué hemos aprendido después de 20 años?
López-Hernández Lb,María de la Luz Ayala-Madrigal,van Heusden D,Francisco Javier Estrada-Mena,Patricia Canto,Sandoval-Ramírez L,Sandoval-Ramírez L,Benjamín Gómez-Díaz,Ramón Mauricio Coral-Vázquez +8 more
TL;DR: New technologies have improved early detection and optimal management of dystrophinopathies and have established the basis for future molecular medicine.
References
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Journal ArticleDOI
A simple salting out procedure for extracting DNA from human nucleated cells
TL;DR: A rapid, safe and inexpensive method was developed to simplify the deprotein-ization procedure that yielded quantities comparable to those obtained from phenol-chloroform extractions, rendering the entire process of RFLP analysis free of toxic materials.
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Dystrophin: The protein product of the duchenne muscular dystrophy locus
TL;DR: The identification of the mdx mouse as an animal model for DMD has important implications with regard to the etiology of the lethal DMD phenotype, and the protein dystrophin is named because of its identification via the isolation of the Duchenne muscular dystrophy locus.
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Complete cloning of the Duchenne muscular dystrophy (DMD) cDNA and preliminary genomic organization of the DMD gene in normal and affected individuals.
TL;DR: The 14 kb human Duchenne muscular dystrophy cDNA corresponding to a complete representation of the fetal skeletal muscle transcript has been cloned and the majority of deletions are concentrated in a single genomic segment corresponding to only 2 kb of the transcript.
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Deletion screening of the Duchenne muscular dystrophy locus via multiplex DNA amplification
Jeffrey S. Chamberlain,Richard A. Gibbs,Joel E. Rainer,Phi Nga Nguyen,Phi Nga Nguyen,C. Thomas,C. Thomas +6 more
TL;DR: This procedure utilizes simultaneous genomic DNA amplification of multiple widely separated sequences and should permit deletion scanning at any hemizygous locus and it is demonstrated the application of this multiplex reaction for prenatal and postnatal diagnosis of DMD.
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Detection of 98% of DMD/BMD gene deletions by polymerase chain reaction
TL;DR: Using oligonucleotide primer sequences that can be used to amplify eight exons plus the muscle promoter of the dystrophin gene in a single multiplex polymerase chain reaction (PCR) will allow deletion detection and prenatal diagnosis for most DMD/BMD patients in a fraction of the time required for Southern blot analysis.