Pseudometabolic presentation of dystrophinopathy due to a missense mutation

Muscle and Nerve

Volumn 42, Issue 6, 2010, Pages 975-979

  Veerapandiyan, Aravindhan ^a   Shashi, Vandana ^b   Jiang, Yong Hui ^b   Gallentine, William Brian ^b   Schoch, Kelly ^b   Smith, Edward Clinton ^b  

^a Swami Clinic   (India)

^b DUKE UNIVERSITY MEDICAL CENTER   (United States)

Author keywords

BMD; DMD; Dystrophin; Exercise intolerance; Rhabdomyolysis

Indexed keywords

AMINO ACID; CREATINE KINASE; DYSTROPHIN; LEUCINE; PROLINE;

ADOLESCENT; AMINO ACID SUBSTITUTION; ARTICLE; BICEPS BRACHII MUSCLE; CASE REPORT; CHILD; CODON; CREATINE KINASE BLOOD LEVEL; DUCHENNE MUSCULAR DYSTROPHY; ELECTROMYOGRAPHY; EXON; FAR WESTERN BLOTTING; FIBROSING ALVEOLITIS; GENE; GENE SEQUENCE; HIGH ARCHED PALATE; HUMAN; HUMAN TISSUE; IMMUNOHISTOCHEMISTRY; MALE; METABOLIC PARAMETERS; MISSENSE MUTATION; MUSCLE ATROPHY; MUSCLE BIOPSY; MUSCLE NECROSIS; MUSCLE STIFFNESS; MUSCLE STRENGTH; MYALGIA; MYOGLOBINURIA; MYOPATHY; NEUROLOGIC EXAMINATION; POINT MUTATION; PRIORITY JOURNAL; RHABDOMYOLYSIS; SCHOOL CHILD;

ADOLESCENT; CHILD; DYSTROPHIN; EXERCISE; HUMANS; MALE; MUSCLE, SKELETAL; MUSCULAR DISEASES; MUTATION, MISSENSE; MYOGLOBINURIA;

EID: 78649652335     PISSN: 0148639X     EISSN: 10974598     Source Type: Journal    
DOI: 10.1002/mus.21823     Document Type: Article

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