Cardiomyopathies due to homoplasmic mitochondrial tRNA mutations: Morphologic and molecular features

Human Pathology

Volumn 44, Issue 7, 2013, Pages 1262-1270

  Giordano, Carla ^a   Perli, Elena ^a,b   Orlandi, Maurizia ^a,b   Pisano, Annalinda ^a,b   Tuppen, Helen A ^c   He, Langping ^c   Ierinò, Rocco ^a   Petruzziello, Luciano ^b   Terzi, Amedeo ^d   Autore, Camillo ^b   Petrozza, Vincenzo ^e   Gallo, Pietro ^a   Taylor, Robert W ^c   D'Amati, Giulia ^a  

^a SAPIENZA UNIVERSITY OF ROME   (Italy)

^b SAPIENZA UNIVERSITY OF ROME   (Italy)

^c NEWCASTLE UNIVERSITY   (United Kingdom)

^d OSPEDALI RIUNITI   (Italy)

^e SAPIENZA UNIVERSITY OF ROME   (Italy)

Author keywords

Cardiomyopathies; Mitochondrial tRNA mutations; Pathogenicity

Indexed keywords

CYTOCHROME C OXIDASE; ISOLEUCINE TRANSFER RNA LIGASE; MITOCHONDRION ANTIBODY; SUCCINATE DEHYDROGENASE; TRANSFER RNA;

ADULT; ARTICLE; CARDIOMYOPATHY; CASE REPORT; CHILD; CONGESTIVE HEART FAILURE; DNA DETERMINATION; GENE MUTATION; HEARING IMPAIRMENT; HEART HYPERTROPHY; HEART MUSCLE BIOPSY; HEART MUSCLE CELL; HISTOPATHOLOGY; HOMOGENATE; HUMAN; HUMAN CELL; IMMUNOHISTOCHEMISTRY; MALE; NORTHERN BLOTTING; PATHOGENICITY; RESTRICTION FRAGMENT LENGTH POLYMORPHISM; SCHOOL CHILD; STAINING;

ADOLESCENT; CARDIOMYOPATHIES; CHILD; HEART TRANSPLANTATION; HUMANS; MALE; MITOCHONDRIAL DISEASES; MYOCYTES, CARDIAC; POINT MUTATION; POLYMORPHISM, RESTRICTION FRAGMENT LENGTH; RNA; RNA, TRANSFER, ILE; VACUOLES; YOUNG ADULT;

EID: 84879201859     PISSN: 00468177     EISSN: 15328392     Source Type: Journal    
DOI: 10.1016/j.humpath.2012.10.011     Document Type: Article

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