A mitochondrial DNA mutation in a patient with an extensive family history of Duchenne muscular dystrophy

Muscle and Nerve

Volumn 30, Issue 1, 2004, Pages 118-122

  Wong, Lee Jun C ^a   Wladyka, Christopher ^a   Mardach Verdon, Rebecca ^b  

^a GEORGETOWN UNIVERSITY MEDICAL CENTER   (United States)

^b KAISER PERMANENTE   (United States)

Author keywords

Duchenne muscular dystrophy; MELAS; Mitochondrial disorder; mtDNA mutation

Indexed keywords

ADENINE; ETHIDIUM BROMIDE; GUANINE; MITOCHONDRIAL DNA;

ADULT; ARTICLE; CASE REPORT; CONTROLLED STUDY; DIAGNOSTIC ERROR; DISORDERS OF MITOCHONDRIAL FUNCTIONS; DOT HYBRIDIZATION; DUCHENNE MUSCULAR DYSTROPHY; FAMILY HISTORY; GENE MUTATION; HETEROPLASMY; HUMAN; HUMAN CELL; HUMAN TISSUE; MALE; MELAS SYNDROME; NEUROMUSCULAR DISEASE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; RESTRICTION FRAGMENT LENGTH POLYMORPHISM; SENSITIVITY AND SPECIFICITY;

ADOLESCENT; DNA, MITOCHONDRIAL; FAMILY HEALTH; FEMALE; HUMANS; MALE; MELAS SYNDROME; MUSCULAR DYSTROPHY, DUCHENNE; PEDIGREE; POINT MUTATION;

EID: 3042815537     PISSN: 0148639X     EISSN: None     Source Type: Journal    
DOI: 10.1002/mus.20045     Document Type: Article

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