A novel deletion mutation of lactate dehydrogenase A(M) gene in the fifth family with the enzyme deficiency

Maekawa, Masato; Sudo, Kayoko; Kanno, Takashi; Takayasu, Susumu; Li, Steven S.‐L.; Kltajima, Masato; Matsuura, Yukio

doi:10.1093/hmg/3.5.825

Cited by 19 publications

(12 citation statements)

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“…A4 is located primarily in skeletal muscle and B4 is located primarily in the myocardium. Exertional myoglobinuria related to LDH-A mutations follows an autosomal recessive inheritance with considerable genetic heterogeneity (5,7,8,10) and an estimated carrier frequency of ϳ0.185% in 1 study (11).…”

Section: Discussionmentioning

confidence: 99%

Physical therapy–induced rhabdomyolysis and acute kidney injury associated with reduced activity of muscle lactate dehydrogenase A

Lee¹,

Zand²,

Manek³

et al. 2011

Arthritis Care & Research

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Section: Discussionmentioning

confidence: 99%

Physical therapy–induced rhabdomyolysis and acute kidney injury associated with reduced activity of muscle lactate dehydrogenase A

Lee¹,

Zand²,

Manek³

et al. 2011

Arthritis Care & Research

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“…LDH is a tetrameric enzyme composed of various proportions of a muscle-specific subunit (LDH-A) and a cardiac subunit (LDH-B). LDH-A is encoded by a gene on chromosome 11, and three different mutations have been identified in Japanese patients [73][74][75], while the only two described white patients had two distinct mutations [76]. In addition to muscle symptoms, three affected Japanese women suffered from dystocia necessitating cesarian sections, and a few patients had dermatologic problems [77].…”

Section: Lactate Dehydrogenase (Ldh) Deficiency (Glycogenosis Type Xi)mentioning

confidence: 99%

Metabolic Myopathies

DiMauro

Akman

Paradas

2013

Neuromuscular Disorders in Clinical Practice

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IntroductionInborn errors of glycogen and fatty acid metabolism that cause exclusively or predominantly neuromuscular disorders are characterized by dynamic or static symptoms. Dynamic symptoms are acute, recurrent, reversible muscle dysfunctions, manifesting as exercise intolerance, myalgia with or without painful cramps (contractures), and often culminating in muscle breakdown and myoglobinuria. In contrast, static symptoms are manifested by fixed, often progressive weakness, sometimes simulating dystrophic or neurogenic processes ( Fig. 63.1).To understand glycogen and lipid storage disorders, a brief review of muscle metabolism at rest and during exercise is helpful.The "fuel" utilized by muscle depends on several factors, most importantly the type, intensity, and duration of exercise but also diet and physical conditioning. At rest, muscle utilizes predominantly fatty acids. At the opposite end of the spectrum, the energy for extremely intense exercise (close to one's maximal oxygen uptake, or VO 2 max, in dynamic exercise or close to maximal force generation in isometric exercise) derives from anaerobic glycolysis, especially when there is a "burst" of activity with rapid acceleration to maximal exercise. During submaximal exercise, the type of fuel utilized by muscle depends on the relative intensity of exertion. At low intensity (below 50 % VO 2 max), blood glucose and free fatty acids (FFA) are the primary sources of energy. At higher intensities, the proportion of energy derived from carbohydrate oxidation increases, and muscle glycogen becomes an important fuel; at 70-80 % VO 2 max, aerobic metabolism of glycogen is the crucial source of energy, and fatigue appears to set in when glycogen is exhausted. The type of circulating substrate utilized during mild exercise varies with time, and there is a gradual increase in the utilization of FFA over glucose until, a few hours into

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“…gene (Shen et al, 1993;Upadhyaya et al, 1993;Legius et al, 1994), the adenomatous polyposis coli (APC) gene (Paul et al, 1993;Gayther et al, 1994;Hamzehloei et al, 1994; 1994), the neurofibromatosis type 2 (NF2) gene (Sainz et al, 1994), the lactate dehydrogenase A(M) gene (Maekawa et al, 1994), the human peripheridRDS gene (Meins et al, 1993), Waardenburg's syndrome patients (Tassabehji et al, 1992), phenylketonuria (Wood et al, 1993a), and in the diagnosis of sickle-cell disease (Wood et al, 199313) closely related viruses, which did not contain insertions or deletions, displayed heteroduplexes reduced in migration from 1-10%. In contrast highly divergent isolates generated heteroduplexes with up to 80% reductions in mobilities.…”

Section: Applications Of Heteroduplex Analysismentioning

confidence: 99%

Applications of heteroduplex analysis for mutation detection in disease genes

Glavač

Dean

1995

Hum. Mutat.

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Double-stranded heteroduplex molecules that form between a mutant and wild-type DNA strand are often distinguished from homoduplex molecules upon gel electrophoresis. This method, heteroduplex analysis (HA), can be performed rapidly without radioisotopes or specialized equipment. Modifications and enhancements of the HA method have been developed that increase the sensitivity of detection of single-base pair alterations.

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A novel deletion mutation of lactate dehydrogenase A(M) gene in the fifth family with the enzyme deficiency

Cited by 19 publications

References 0 publications

Physical therapy–induced rhabdomyolysis and acute kidney injury associated with reduced activity of muscle lactate dehydrogenase A

Physical therapy–induced rhabdomyolysis and acute kidney injury associated with reduced activity of muscle lactate dehydrogenase A

Metabolic Myopathies

Applications of heteroduplex analysis for mutation detection in disease genes

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