A novel mutation expands the genetic and clinical spectrum of MYH7-related myopathies

Neuromuscular Disorders

Volumn 23, Issue 5, 2013, Pages 432-436

  Clarke, Nigel F ^a   Amburgey, Kimberly ^b   Teener, James ^b   Camelo Piragua, Sandra ^b   Kesari, Akanchha ^c   Punetha, Jaya ^c   Waddell, Leigh B ^a   Davis, Mark ^d   Laing, Nigel G ^d   Monnier, Nicole ^e   North, Kathryn N ^a   Hoffman, Eric P ^c   Dowling, James J ^b  

^a UNIVERSITY OF SYDNEY   (Australia)

^b UNIVERSITY OF MICHIGAN HEALTH SYSTEM   (United States)

^c CHILDREN'S NATIONAL MEDICAL CENTER   (United States)

^d UNIVERSITY OF WESTERN AUSTRALIA   (Australia)

^e GRENOBLE UNIVERSITY HOSPITAL   (France)

Author keywords

Axial myopathy; Congenital myopathies; Laing distal myopathy; MYH7

Indexed keywords

ARGININE; CONNECTIN; CREATINE KINASE; GLUTAMINE; GLYCINE; LEUCINE; PROLINE; RYANODINE RECEPTOR 1; SERINE;

ADULT; ARTICLE; CASE REPORT; CLINICAL EVALUATION; COL6A3 GENE; DISEASE SEVERITY; ELECTROMYOGRAPHY; FEMALE; FORCED VITAL CAPACITY; GENE; GENE IDENTIFICATION; GENETIC ANALYSIS; GENETIC VARIABILITY; HISTOPATHOLOGY; HUMAN; HUMAN TISSUE; LUNG DISEASE; MEDICAL HISTORY; MISSENSE MUTATION; MULTIMINICORE DISEASE; MUSCLE BIOPSY; MUSCLE CONTRACTURE; MUSCLE WEAKNESS; MYH7 GENE; MYOPATHY; PERONEUS NERVE PARALYSIS; PHENOTYPE; PRIORITY JOURNAL; RYR1 GENE; SANGER SEQUENCING; SCOLIOSIS; SEQUENCE ANALYSIS; TTN GENE;

ADOLESCENT; ADULT; CARDIAC MYOSINS; FEMALE; GENETIC PREDISPOSITION TO DISEASE; HUMANS; MUSCULAR DISEASES; MUTATION; MYOSIN HEAVY CHAINS;

EID: 84876078802     PISSN: 09608966     EISSN: 18732364     Source Type: Journal    
DOI: 10.1016/j.nmd.2013.02.009     Document Type: Article

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