The m.5650G > A mitochondrial tRNAAla mutation is pathogenic and causes a phenotype of pure myopathy

Neuromuscular Disorders

Volumn 18, Issue 1, 2008, Pages 63-67

  McFarland, Robert ^a   Swalwell, Helen ^a   Blakely, Emma L ^a   He, Langping ^a   Groen, Emma J ^b   Turnbull, Douglass M ^a,b   Bushby, Kate M ^b   Taylor, Robert W ^a,b  

^a NEWCASTLE UNIVERSITY   (United Kingdom)

^b NEWCASTLE UNIVERSITY   (United Kingdom)

Author keywords

Maternal inheritance; Mitochondrial myopathy; Mitochondrial tRNA mutation

Indexed keywords

TRANSFER RNA;

ARTICLE; CASE REPORT; DNA ISOLATION; DNA SEQUENCE; ENZYME ANALYSIS; FEMALE; GENE MUTATION; HUMAN; IMMUNOHISTOCHEMISTRY; MUSCLE BIOPSY; MYOPATHY; PHENOTYPE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; RESTRICTION FRAGMENT LENGTH POLYMORPHISM; SCHOOL CHILD; SOUTHERN BLOTTING;

ADULT; ALANINE; BASE SEQUENCE; CHILD; DNA MUTATIONAL ANALYSIS; FEMALE; GENETIC MARKERS; GENETIC PREDISPOSITION TO DISEASE; GENETIC SCREENING; HUMANS; INHERITANCE PATTERNS; MIDDLE AGED; MITOCHONDRIA; MITOCHONDRIAL MYOPATHIES; MOLECULAR SEQUENCE DATA; MUSCLE FIBERS; MUSCLE, SKELETAL; PHENOTYPE; POINT MUTATION; RNA, TRANSFER;

EID: 38649142783     PISSN: 09608966     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.nmd.2007.07.007     Document Type: Article

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