Severe congenital actin related myopathy with myofibrillar myopathy features

Neuromuscular Disorders

Volumn 25, Issue 6, 2015, Pages 488-492

  Selcen, Duygu ^a  

^a MAYO CLINIC   (United States)

Author keywords

Actin; Myofibrillar myopathy

Indexed keywords

ALPHA ACTIN; ALPHA CRYSTALLIN; DESMIN; DYSTROPHIN; GENOMIC DNA; MEMBRANE PROTEIN; MYOTILIN; NERVE CELL ADHESION MOLECULE; PYRIDOSTIGMINE; UNCLASSIFIED DRUG; ACTIN;

ACTA1 GENE; AMINOACIDURIA; ANIMAL CELL; ARTICLE; ARTIFICIAL VENTILATION; CASE REPORT; CHILD; CLINICAL FEATURE; CONGENITAL MYASTHENIC SYNDROME; CYTOPLASM; DISEASE SEVERITY; ELECTROMYOGRAM; ENTERIC FEEDING; GENE DUPLICATION; GENE MUTATION; GENETIC PROCEDURES; GENETIC TRANSFECTION; HUMAN; HUMAN TISSUE; IMMUNOHISTOCHEMISTRY; JOINT CONTRACTURE; MALE; MOTOR DYSFUNCTION; MUSCLE ATROPHY; MUSCLE BIOPSY; MUSCLE HYPOTONIA; MUSCLE WEAKNESS; MUTATIONAL ANALYSIS; MYOFIBRILLAR MYOPATHY; MYOPATHY; NONHUMAN; PRESCHOOL CHILD; PRIORITY JOURNAL; PROTEIN AGGREGATION; PROTEIN EXPRESSION; WHOLE EXOME SEQUENCING; WILD TYPE; COMPLICATION; GENETICS; PATHOLOGY; SKELETAL MUSCLE;

ACTINS; CHILD, PRESCHOOL; GENE DUPLICATION; HUMANS; MALE; MUSCLE HYPOTONIA; MUSCLE, SKELETAL; MYOPATHIES, STRUCTURAL, CONGENITAL;

EID: 84929652897     PISSN: 09608966     EISSN: 18732364     Source Type: Journal    
DOI: 10.1016/j.nmd.2015.04.002     Document Type: Article

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