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Rare Disease Connect in Neurology (RDCN)
Rare Disease Connect in Neurology (RDCN) is a long-term learning program, connecting the MG community committed to delivering excellence for patients living with myasthenia gravis (MG). Our mission is to collaborate, educate and inspire through cutting-edge science, expert insight, and lively discussion. Imagine what we can do for patients, together.
Mitochondrial Myopathies Mimicking Neuromuscular Diseases: A Case-Based Exploration
Chapters
Name
Welcome, Introduction, Objectives
Chapter Time
00:00:00
Chapter Seconds
0
Name
Differential Diagnosis of a Rare Myopathy in Practice: A Clinical Case Discussion
Chapter Time
00:03:37
Chapter Seconds
217
Name
Background and Epidemiology of Mitochondrial Diseases
Chapter Time
00:12:21
Chapter Seconds
741
Name
Epidemiology of mitochondrial diseases
Chapter Time
00:12:21
Chapter Seconds
741
Name
Overview of mitochondrial diseases
Chapter Time
00:13:55
Chapter Seconds
835
Name
Overview of MDDSs
Chapter Time
00:16:04
Chapter Seconds
964
Name
Overlapping phenotypes of myopathic MDDS with other neurological and muscular diseases
Chapter Time
00:18:22
Chapter Seconds
1102
Name
TK2d: A Rare, Progressive, Devastating Mitochondrial Myopathy
Chapter Time
00:19:37
Chapter Seconds
1177
Name
Epidemiology of TK2d
Chapter Time
00:19:37
Chapter Seconds
1177
Name
Pathophysiology of TK2d
Chapter Time
00:20:36
Chapter Seconds
1236
Name
Presentation of TK2d
Chapter Time
00:21:17
Chapter Seconds
1277
Name
Patient video
Chapter Time
00:26:38
Chapter Seconds
1598
Name
Decoding the Genetic Blueprint: Diagnosis and the Importance of Genetic Testing
Chapter Time
00:30:09
Chapter Seconds
1809
Name
Overview of the diagnosis of mitochondrial myopathies
Chapter Time
00:30:09
Chapter Seconds
1809
Name
Challenges in the diagnosis mitochondrial myopathies
Chapter Time
00:32:19
Chapter Seconds
1939
Name
Genetic testing in the diagnosis of mitochondrial myopathies
Chapter Time
00:33:39
Chapter Seconds
2019
Name
Closing Remarks
Chapter Time
00:38:19
Chapter Seconds
2299
Name
Question and Answer Discussion
Chapter Time
00:39:50
Chapter Seconds
2390