A novel MYH7 mutation with prominent paraspinal and proximal muscle involvement

Neuromuscular Disorders

Volumn 23, Issue 7, 2013, Pages 580-586

  Park, Jin Mo ^a   Kim, Ye Jin ^b   Yoo, Jeong Hyun ^a   Hong, Young Bin ^a   Park, Ji Hoon ^b   Koo, Heasoo ^a   Chung, Ki Wha ^b   Choi, Byung Ok ^a  

^a Ewha Womans University School of Medicine   (South Korea)

^b Kongju National University   (South Korea)

Author keywords

Exome; Korean; Laing distal myopathy; MRI; MYH7

Indexed keywords

MYOSIN HEAVY CHAIN BETA;

ADULT; AMINO ACID SUBSTITUTION; AMINO TERMINAL SEQUENCE; ARTICLE; CLINICAL ARTICLE; CONTROLLED STUDY; DISEASE ACTIVITY; DISTAL MYOPATHY; ETHNIC GROUP; EXOME; FAMILY STUDY; FEMALE; HUMAN; HUMAN TISSUE; KOREAN; LAING DISTAL MYOPATHY; LEG MUSCLE; MALE; MISSENSE MUTATION; MYH7 GENE; NEUROPATHOLOGY; NUCLEAR MAGNETIC RESONANCE IMAGING; PRIORITY JOURNAL; SPINAL MUSCULAR ATROPHY; TRAPEZIUS MUSCLE;

CARDIAC MYOSINS; DISTAL MYOPATHIES; FEMALE; GENETIC PREDISPOSITION TO DISEASE; HUMANS; MALE; MIDDLE AGED; MUSCLE WEAKNESS; MUSCLE, SKELETAL; MUTATION; MYOSIN HEAVY CHAINS;

EID: 84879001715     PISSN: 09608966     EISSN: 18732364     Source Type: Journal    
DOI: 10.1016/j.nmd.2013.04.003     Document Type: Article

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