✦ LIBER ✦

A mitochondrial DNA mutation in a patient with an extensive family history of Duchenne muscular dystrophy

✍ Scribed by Lee-Jun C. Wong; Christopher Wladyka; Rebecca Mardach-Verdon

Publisher: John Wiley and Sons
Year: 2004
Tongue: English
Weight: 82 KB
Volume: 30
Category: Article
ISSN: 0148-639X
DOI: 10.1002/mus.20045

No coin nor oath required. For personal study only.

✦ Synopsis

Abstract

One challenge in the molecular diagnosis of mitochondrial DNA (mtDNA) disorders is detection of a low percentage of mutant heteroplasmy. We report a patient who had a delayed molecular diagnosis of mitochondrial encephalopathy, lactic acidosis, and stroke‐like episodes (MELAS) syndrome due to the complication of an extensive family history of another neuromuscular disease, Duchenne muscular dystrophy, and the failure to detect a low proportion of mutant A3243G mtDNA with a polymerase chain reaction (PCR)/restriction fragment length polymorphism (RFLP)/ethidium bromide detection method. Using an improved, more sensitive allele‐specific oligonucleotide (ASO) radioactive dot‐blot hybridization method, a low degree of A3243G heteroplasmy was detected in several tissues from this patient. This case underscores the importance of a sensitive mutation detection method and the need for a search for mtDNA mutations if the patient's clinical symptoms suggest a mitochondrial disorder despite the family background of another neuromuscular disease. Muscle Nerve 30: 118–122, 2004

📜 SIMILAR VOLUMES

Detection of point mutation in dystrophi

Detection of point mutation in dystrophin gene reveals somatic and germline mosaicism in the mother of a patient with Duchenne muscular dystrophy

✍ Essen, Anthonie J. van ;Mulder, Inge M. ;Vlies, Pieter van der ;Hout, Annemarie 📂 Article 📅 2003 🏛 John Wiley and Sons 🌐 English ⚖ 66 KB 👁 2 views

Mutation analysis in Duchenne and Becker

Mutation analysis in Duchenne and Becker muscular dystrophy patients from Bulgaria shows a peculiar distribution of breakpoints by intron

✍ Todorova, Albena; Bronzova, Juliana; Miorin, Marta; Rosa, Maurizio; Kremensky, I 📂 Article 📅 1996 🏛 John Wiley and Sons 🌐 English ⚖ 334 KB 👁 2 views

For the first time in Bulgaria, a deletion/ duplication screening was performed on a group of 84 unrelated Duchennemecker muscular dystrophy patients, and the breakpoint distribution in the dystrophin gene was analyzed. Intragenic deletions were detected in 67.8% of patients, and intragenic duplicat

Newly recognized exons induced by a spli

Newly recognized exons induced by a splicing abnormality from an intronic mutation of the dystrophin gene resulting in Duchenne muscular dystrophy

✍ Makoto Ikezawa; Ichizo Nishino; Yu-ichi Goto; Teruhisa Miike; Ikuya Nonaka 📂 Article 📅 1999 🏛 John Wiley and Sons 🌐 English ⚖ 25 KB 👁 2 views

A boy with the clinical phenotype of Duchenne muscular dystrophy had no detectable deletion or duplication in the dystrophin gene by the routine multiplex PCR method. In mRNA extracted from his muscle biopsy, newly recognized extra-exons of 172 bp and 202 bp were present between exon 25 and 26 sugge

The MERRF mutation of mitochondrial DNA

The MERRF mutation of mitochondrial DNA in the bone marrow of a patient with acquired idiopathic sideroblastic anemia

✍ Wang, Yan-Ling; Choi, Hi-Kyung; Aul, Carlo; Gattermann, Norbert; Heinisch, J�rge 📂 Article 📅 1999 🏛 John Wiley and Sons 🌐 English ⚖ 425 KB 👁 2 views

Identification of a novel truncating mut

Identification of a novel truncating mutation (S171X) in the Emerin gene in five members of a caucasian American family with Emery-Dreifuss muscular dystrophy

✍ Caroline C. Menache; Charlotte A. Brown; Joseph H. Donnelly; Frederic Shapiro; B 📂 Article 📅 2000 🏛 John Wiley and Sons 🌐 English ⚖ 15 KB 👁 2 views

Repopulation of ρ0 cells with mitochondr

Repopulation of ρ0 cells with mitochondria from a patient with a mitochondrial DNA point mutation in tRNAGly results in respiratory chain dysfunction

✍ Sandeep Raha; Frank Merante; Eric Shoubridge; A. Tomoko Myint; Ingrid Tein; Lee 📂 Article 📅 1999 🏛 John Wiley and Sons 🌐 English ⚖ 475 KB 👁 1 views

Familial hypertrophic ventricular cardiomyopathy has been demonstrated to be associated with a number of mitochondrial DNA (mtDNA) mutations. A fibroblast cell line carrying a mutation in its mtDNA at position 9997 in the gene encoding tRNA glycine was obtained from a patient with hypertrophic cardi