scholarly journals Mitochondrial Myopathies

2019 ◽  
Author(s):  
Keyword(s):  
Mitochondrial Myopathies

scholarly journals Muscle biopsy essential diagnostic advice for pathologists

2021 ◽  
Vol 4 (1) ◽  
Author(s):  
Ana Cotta ◽  
Elmano Carvalho ◽  
Antonio Lopes da-Cunha-Júnior ◽  
Jaquelin Valicek ◽  
Monica M. Navarro ◽  
...  
Keyword(s):  
Liquid Nitrogen ◽  
Muscle Biopsy ◽  
Diagnostic Procedures ◽  
Mitochondrial Respiratory Chain ◽  
Muscle Disease ◽  
Diagnostic Workup ◽  
Main Body ◽  
Mitochondrial Myopathies ◽  
Muscle Enzymes ◽  
Molecular Studies

Abstract Background Muscle biopsies are important diagnostic procedures in neuromuscular practice. Recent advances in genetic analysis have profoundly modified Myopathology diagnosis. Main body The main goals of this review are: (1) to describe muscle biopsy techniques for non specialists; (2) to provide practical information for the team involved in the diagnosis of muscle diseases; (3) to report fundamental rules for muscle biopsy site choice and adequacy; (4) to highlight the importance of liquid nitrogen in diagnostic workup. Routine techniques include: (1) histochemical stains and reactions; (2) immunohistochemistry and immunofluorescence; (3) electron microscopy; (4) mitochondrial respiratory chain enzymatic studies; and (5) molecular studies. The diagnosis of muscle disease is a challenge, as it should integrate data from different techniques. Conclusion Formalin-fixed paraffin embedded muscle samples alone almost always lead to inconclusive or unspecific results. Liquid nitrogen frozen muscle sections are imperative for neuromuscular diagnosis. Muscle biopsy interpretation is possible in the context of detailed clinical, neurophysiological, and serum muscle enzymes data. Muscle imaging studies are strongly recommended in the diagnostic workup. Muscle biopsy is useful for the differential diagnosis of immune mediated myopathies, muscular dystrophies, congenital myopathies, and mitochondrial myopathies. Muscle biopsy may confirm the pathogenicity of new gene variants, guide cost-effective molecular studies, and provide phenotypic diagnosis in doubtful cases. For some patients with mitochondrial myopathies, a definite molecular diagnosis may be achieved only if performed in DNA extracted from muscle tissue due to organ specific mutation load.

Effects of aerobic training on lactate and catecholaminergic exercise responses in mitochondrial myopathies

2000 ◽  
Vol 10 (1) ◽  
pp. 40-45 ◽  
Author(s):  
Gabriele Siciliano ◽  
Maria Laura Manca ◽  
Maria Renna ◽  
Concetta Prontera ◽  
Antonella Mercuri ◽  
...  
Keyword(s):  
Aerobic Training ◽  
Mitochondrial Myopathies

More on Mitochondrial Myopathies

2016 ◽  
Vol 122 (2) ◽  
pp. 579-580
Author(s):  
Francis Veyckemans ◽  
Luc Heytens ◽  
Jean-Louis Scholtes
Keyword(s):  
Mitochondrial Myopathies

Visual dysfunction in patients with mitochondrial myopathies

1995 ◽  
Vol 89 (3) ◽  
pp. 219-228 ◽  
Author(s):  
Gennaro Ambrosio ◽  
Umberto Giani ◽  
Luciano Loffredo ◽  
Rocco De Marco ◽  
Paola Vastarella
Keyword(s):  
Mitochondrial Myopathies ◽  
Visual Dysfunction

Mitochondrial myopathies: developments in treatment

2010 ◽  
Vol 23 (5) ◽  
pp. 459-465 ◽  
Author(s):  
Adam Hassani ◽  
Rita Horvath ◽  
Patrick F Chinnery
Keyword(s):  
Mitochondrial Myopathies

Mitochondrial myopathies: Clinical and biochemical features of 30 patients with major deletions of muscle mitochondrial DNA

1989 ◽  
Vol 26 (6) ◽  
pp. 699-708 ◽  
Author(s):  
I. J. Holt ◽  
A. E. Harding ◽  
J. M. Cooper ◽  
A. H. V. Schapira ◽  
A. Toscano ◽  
...  
Keyword(s):  
Mitochondrial Dna ◽  
Mitochondrial Myopathies ◽  
Biochemical Features

scholarly journals Understanding mitochondrial myopathies: a review

PeerJ ◽  
2018 ◽  
Vol 6 ◽  
pp. e4790 ◽  
Author(s):  
Abhimanyu S. Ahuja
Keyword(s):  
Speech Therapy ◽  
Nuclear Dna ◽  
Severe Disease ◽  
Mitochondrial Diseases ◽  
The Body ◽  
Genetic Mutations ◽  
Mitochondrial Myopathies ◽  
Positive Side ◽  
Organ Systems ◽  
New Research

Mitochondria are small, energy-producing structures vital to the energy needs of the body. Genetic mutations cause mitochondria to fail to produce the energy needed by cells and organs which can cause severe disease and death. These genetic mutations are likely to be in the mitochondrial DNA (mtDNA), or possibly in the nuclear DNA (nDNA). The goal of this review is to assess the current understanding of mitochondrial diseases. This review focuses on the pathology, causes, risk factors, symptoms, prevalence data, symptomatic treatments, and new research aimed at possible preventions and/or treatments of mitochondrial diseases. Mitochondrial myopathies are mitochondrial diseases that cause prominent muscular symptoms such as muscle weakness and usually present with a multitude of symptoms and can affect virtually all organ systems. There is no cure for these diseases as of today. Treatment is generally supportive and emphasizes symptom management. Mitochondrial diseases occur infrequently and hence research funding levels tend to be low in comparison with more common diseases. On the positive side, quite a few genetic defects responsible for mitochondrial diseases have been identified, which are in turn being used to investigate potential treatments. Speech therapy, physical therapy, and respiratory therapy have been used in mitochondrial diseases with variable results. These therapies are not curative and at best help with maintaining a patient’s current abilities to move and function.

Muscle contractility of leg muscles in patients with mitochondrial myopathies

Mitochondrion ◽  
2019 ◽  
Vol 46 ◽  
pp. 221-227 ◽  
Author(s):  
Nanna Scharff Poulsen ◽  
Julia Rebecka Dahlqvist ◽  
Gitte Hedermann ◽  
Nicoline Løkken ◽  
John Vissing
Keyword(s):  
Mitochondrial Myopathies ◽  
Muscle Contractility ◽  
Leg Muscles

Mitochondrial Myopathies: Genetic Aspects

1994 ◽  
pp. 59-98 ◽  
Author(s):  
SCOTT W. BALLINGER ◽  
JOHN M. SHOFFNER ◽  
DOUGLAS C. WALLACE
Keyword(s):  
Mitochondrial Myopathies
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