Diaphragmatic weakness with progressive sensory and motor polyneuropathy: Case Report of a Neonatal IGHMBP2-Related Neuropathy

Journal of Child Neurology

Volumn 28, Issue 6, 2013, Pages 784-787

  Gitiaux, Cyril ^a   Bergounioux, Jean ^a   Magen, Maryse ^a   Quijano Roy, Susana ^b   Blanc, Thierry ^c   Bonnefont, Jean Paul ^d   Desguerre, Isabelle ^a  

^a HÔPITAL NECKER ENFANTS MALADES   (France)

^b LABORATOIRE DES SCIENCES DU CLIMAT ET DE L ENVIRONNEMENT   (France)

^c HÔPITAL CHARLES NICOLLE   (France)

^d INSERM   (France)

Author keywords

diaphragmatic weakness; infantile neuropathy; palsy; peripheral nervous system diseases; spinal muscular atrophy with respiratory distress type I

Indexed keywords

BINDING PROTEIN; IMMUNOGLOBULIN MU BINDING PROTEIN 2; UNCLASSIFIED DRUG; DNA BINDING PROTEIN; IGHMBP2 PROTEIN, HUMAN; TRANSCRIPTION FACTOR;

ARTICLE; ASPHYXIA; BRADYCARDIA; CASE REPORT; CHILD; CONSCIOUSNESS DISORDER; CYANOSIS; DIAPHRAGM PARALYSIS; ELECTRONEUROGRAPHY; FIBERSCOPE ENDOSCOPY; FLUOROSCOPY; HUMAN; HYPOXIA; INFANT; MALE; NUCLEAR MAGNETIC RESONANCE IMAGING; PRIORITY JOURNAL; RESPIRATORY DISTRESS; SPINAL MUSCULAR ATROPHY; ARTIFICIAL VENTILATION; CROSS-SECTIONAL STUDY; DIAPHRAGMATIC WEAKNESS; DIFFERENTIAL DIAGNOSIS; ELECTROMYOGRAPHY; FATALITY; GENETICS; INFANTILE NEUROPATHY; NEONATAL RESPIRATORY DISTRESS SYNDROME; NEUROLOGIC EXAMINATION; NEWBORN; NUCLEOTIDE SEQUENCE; PARALYSIS; PERIPHERAL NEUROPATHY; PHENOTYPE; SPINAL MUSCULAR ATROPHY WITH RESPIRATORY DISTRESS TYPE I;

DIAPHRAGMATIC WEAKNESS; INFANTILE NEUROPATHY; PALSY; PERIPHERAL NERVOUS SYSTEM DISEASES; SPINAL MUSCULAR ATROPHY WITH RESPIRATORY DISTRESS TYPE I;

CROSS-SECTIONAL STUDIES; DIAGNOSIS, DIFFERENTIAL; DNA MUTATIONAL ANALYSIS; DNA-BINDING PROTEINS; ELECTROMYOGRAPHY; FATAL OUTCOME; HUMANS; INFANT; INFANT, NEWBORN; MALE; MUSCULAR ATROPHY, SPINAL; NEUROLOGIC EXAMINATION; PHENOTYPE; RESPIRATORY DISTRESS SYNDROME, NEWBORN; RESPIRATORY PARALYSIS; TRANSCRIPTION FACTORS; VENTILATOR WEANING;

EID: 84878049617     PISSN: 08830738     EISSN: 17088283     Source Type: Journal    
DOI: 10.1177/0883073812450209     Document Type: Article

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