A newborn with spinal muscular atrophy type 0 presenting with a clinicopathological picture suggestive of myotubular myopathy

Journal of Child Neurology

Volumn 22, Issue 11, 2007, Pages 1301-1304

  Nadeau, Amelie ^a   D'Anjou, Guy ^a   Debray, Guillaume ^b   Robitaille, Yves ^b   Simard, Louise R ^c   Vanasse, Michel ^a,b  

^a UNIVERSITÉ DE MONTRÉAL   (Canada)

^b UNIVERSITY OF MONTREAL   (Canada)

^c UNIVERSITY OF MANITOBA   (Canada)

Author keywords

Myotubular myopathy; Myotubularin; Spinal muscular atrophy

Indexed keywords

CELL PROTEIN; MYOTUBULARIN; SURVIVAL MOTOR NEURON PROTEIN; SURVIVAL MOTOR NEURON PROTEIN 1; SURVIVAL MOTOR NEURON PROTEIN 2; TETRAZOLIUM REDUCTASE; UNCLASSIFIED DRUG;

ARTHROGRYPOSIS; ARTICLE; CASE REPORT; CELL MATURATION; CENTRONUCLEAR MYOPATHY; CESAREAN SECTION; CHILD DEATH; COMPUTER ASSISTED TOMOGRAPHY; CONTROLLED STUDY; GENE DELETION; GENETIC SCREENING; HEART MASSAGE; HISTOPATHOLOGY; HUMAN; HUMAN TISSUE; IMMUNOHISTOCHEMISTRY; INFANT; MALE; MOLECULAR GENETICS; MUSCLE BIOPSY; NEUROPATHOLOGY; PERIPHERAL EDEMA; PRIORITY JOURNAL; PROTEIN DEFICIENCY; PROTEIN EXPRESSION; PROTEIN FUNCTION; QUADRIPLEGIA; RESPIRATORY FAILURE; RESUSCITATION; SPINAL MUSCULAR ATROPHY; SUBARACHNOID HEMORRHAGE; WEAKNESS;

EID: 36248963510     PISSN: 08830738     EISSN: None     Source Type: Journal    
DOI: 10.1177/0883073807307105     Document Type: Article

References (12)

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