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Documents Animal models for muscular dystrophy Vincenzo Nigro Laboratorio di genetica - Dipartimento di...

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Hypertrophic cardiomyopathy Frank and Mehta Definition The term cardiomyopathy is purely descriptive, meaning disease of the heart muscle Hypertrophic cardiomyopathy (HCM)…

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Biochemistry and Health Biochemistry and Health 1 Cell 2 Disease starts at the level of the cell Long before we see disease in tissues or organs, there are changes in the…

Documents Approach to myopathy

Approach to myopathy The first goal in approaching a patient with a suspected muscle disease is to determine the correct site of the lesion. The second goal is to determine…

Documents POLG-related disorders

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Documents What is... Mitochondrial Disease

MDA-MCDA 17001 Flash Card DMD v9Families Mitochondria are tiny organelles found in the nucleus of nearly every cell in the body. Often referred to as the cell’s “powerhouse,”

Documents Anaesthetic management of a patient with Leigh’s syndrome with central hypoventilation and...

e250 INTRODUCTION Leigh’s syndrome, a subacute necrotising encephalomyelo- pathy, was first described by Dennis Leigh in 1951.(1) It is a hereditary neurodegenerative

Documents Obstetric anesthesia considerations in Kearns-Sayre syndrome

Kearns-Sayre syndrome (KSS) is a rare mitochondrial myopathy that usually develops before 20 years of age. It demon- strates multisystemic involvement with a triad of cardinal

Documents A Case of Mitochondrial Myopathy With Cardiac Involvement

Microsoft Word - 0032008083.docKorean Circ J 2008;38:491-494 Print ISSN 1738-5520 / On-line ISSN 1738-5555 Copyright 2008 The Korean Society of Cardiology A Case of Mitochondrial