Educational Case: Mitochondrial Myopathy

被引：3
作者：
Lucas, Calixto-Hope G. [1 ]
Margeta, Marta [1 ]
机构：
[1] Univ Calif San Francisco, Dept Pathol, Box 0511,513 Parnassus Ave,HSW 514, San Francisco, CA 94143 USA
来源：
ACADEMIC PATHOLOGY | 2019年 / 6卷
关键词：
pathology competencies; organ system pathology; nervous system-central; neuromuscular disorders; mitochondrial disorders; mitochondrial inheritance; mitochondrial myopathy; DIAGNOSIS;
D O I：
10.1177/2374289519888732
中图分类号：
R36 [病理学];
学科分类号：
100104 ;
摘要：
The following fictional case is intended as a learning tool within the Pathology Competencies for Medical Education (PCME), a set of national standards for teaching pathology. These are divided into three basic competencies: Disease Mechanisms and Processes, Organ System Pathology, and Diagnostic Medicine and Therapeutic Pathology. For additional information, and a full list of learning objectives for all three competencies, see http://journals.sagepub.com/doi/10.1177/2374289517715040.1. © The Author(s) 2019.
引用
收藏
页数：6
相关论文
共 11 条
[1]   Diagnosis and Treatment of Mitochondrial Myopathies [J].
Ahmed, Syeda T. ;
Craven, Lyndsey ;
Russell, Oliver M. ;
Turnbull, Doug M. ;
Vincent, Amy E. .
NEUROTHERAPEUTICS, 2018, 15 (04) :943-953
[2]   The genetics and pathology of mitochondrial disease [J].
Alston, Charlotte L. ;
Rocha, Mariana C. ;
Lax, Nichola Z. ;
Turnbull, Doug M. ;
Taylor, Robert W. .
JOURNAL OF PATHOLOGY, 2017, 241 (02) :236-250
[3]   MELAS syndrome: Clinical manifestations, pathogenesis, and treatment options [J].
El-Hattab, Ayman W. ;
Adesina, Adekunle M. ;
Jones, Jeremy ;
Scaglia, Fernando .
MOLECULAR GENETICS AND METABOLISM, 2015, 116 (1-2) :4-12
[4]   Progressive External Ophthalmoplegia [J].
McClelland, Collin ;
Manousakis, Georgios ;
Lee, Michael S. .
CURRENT NEUROLOGY AND NEUROSCIENCE REPORTS, 2016, 16 (06)
[5]   Diagnosis of mitochondrial myopathies [J].
Milone, Margherita ;
Wong, Lee-Jun .
MOLECULAR GENETICS AND METABOLISM, 2013, 110 (1-2) :35-41
[6]  
OGorman E, 1997, J CELL SCI, V110, P1403
[7]   Diagnosis and treatment of mitochondrial myopathies [J].
Pfeffer, Gerald ;
Chinnery, Patrick F. .
ANNALS OF MEDICINE, 2013, 45 (01) :4-16
[8]  
Regula DP., 2017, ACAD PATHOL, V4, DOI [10.1177/2374289517715040, DOI 10.1177/237428951771504]
[9]   Prevalence of mitochondrial DNA disease in adults [J].
Schaefer, Andrew M. ;
McFarland, Robert ;
Blakely, Emma L. ;
He, Langping ;
Whittaker, Roger G. ;
Taylor, Robert W. ;
Chinnery, Patrick F. ;
Turnbull, Douglass M. .
ANNALS OF NEUROLOGY, 2008, 63 (01) :35-39
[10]   MITOCHONDRIAL CREATINE-KINASE - A MAJOR CONSTITUENT OF PATHOLOGICAL INCLUSIONS SEEN IN MITOCHONDRIAL MYOPATHIES [J].
STADHOUDERS, AM ;
JAP, PHK ;
WINKLER, HP ;
EPPENBERGER, HM ;
WALLIMANN, T .
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 1994, 91 (11) :5089-5093
12