Congenital myopathy with cap-like structures and nemaline rods: Case report and literature review

Pediatric Neurology

Volumn 51, Issue 2, 2014, Pages 192-197

  Piteau, Shalea J ^a   Rossiter, John P ^b   Smith, R Garth ^a   Mackenzie, Jennifer J ^a  

^a QUEEN S UNIVERSITY   (Canada)

^b KINGSTON GENERAL HOSPITAL   (Canada)

Author keywords

cap myopathy; case report; literature review; NEB; nemaline rods

Indexed keywords

ACTA PROTEIN; ALPHA TROPOMYOSIN; BETA TROPOMYOSIN; CREATINE KINASE; FSHMD1A PROTEIN; MITOCHONDRIAL DNA; MYOTONIC DYSTROPHY PROTEIN KINASE; NEBULIN; PROTEIN; SEPN1 PROTEIN; SURVIVAL MOTOR NEURON PROTEIN 1; TNNT1 PROTEIN; TROPOMYOSIN; TROPOMYOSIN 3; UNCLASSIFIED DRUG; MUSCLE PROTEIN;

ASSISTED VENTILATION; ASTHMA; CAP MYOPATHY; CASE REPORT; CHILD; CHRONIC DISEASE; CLINICAL FEATURE; CLINODACTYLY; COMPARATIVE GENOMIC HYBRIDIZATION; CRYPTORCHISM; DNA STRUCTURE; DYSPHAGIA; EXON; FATIGUE; GENE MUTATION; GENETIC SCREENING; GENETIC VARIABILITY; HEART ARREST; HIGH ARCHED PALATE; HISTORY; HOSPITAL DISCHARGE; HUMAN; HUMAN TISSUE; HYPOVENTILATION; INFANCY; INTRON; LOW SET EAR; MALE; MUSCLE ATROPHY; MUSCLE BIOPSY; MUSCLE HYPOTONIA; NEMALINE MYOPATHY; NEUROLOGIC EXAMINATION; NEWBORN INTENSIVE CARE; NOSE FEEDING; PNEUMONIA; PRIORITY JOURNAL; PTOSIS; RECURRENT ASPIRATION; REPEAT PROCEDURE; RESPIRATORY FAILURE; REVIEW; SCHOOL CHILD; SOUTHERN BLOTTING; STOMACH TUBE; TENDON REFLEX; UPPER LIP; WEAKNESS; WHEELCHAIR; GENETICS; MYOPATHY; PATHOLOGY; PATHOPHYSIOLOGY;

CHILD; HUMANS; MALE; MUSCLE PROTEINS; MYOPATHIES, NEMALINE; MYOPATHIES, STRUCTURAL, CONGENITAL;

EID: 84904905739     PISSN: 08878994     EISSN: 18735150     Source Type: Journal    
DOI: 10.1016/j.pediatrneurol.2014.04.002     Document Type: Review

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