A congenital myopathy with diaphragmatic weakness not linked to the SMARD1 locus

Neuromuscular Disorders

Volumn 17, Issue 2, 2007, Pages 174-179

  Hartley, L ^a,f   Kinali, M ^a,f   Knight, R ^a,f   Mercuri, E ^a,b,f   Hubner, C ^c,f   Bertini, E ^d,f   Manzur, A Y ^a,f   Jimenez Mallebrera, C ^a,f   Sewry, C A ^a,e,f   Muntoni, F ^a,f  

^a IMPERIAL COLLEGE LONDON   (United Kingdom)

^b CATHOLIC UNIVERSITY   (Italy)

^c CHARITÉ UNIVERSITÄTSMEDIZIN BERLIN   (Germany)

^d Department of Laboratory Medicine ^*  (Italy)

^e ROBERT JONES AND AGNES HUNT ORTHOPAEDIC HOSPITAL   (United Kingdom)

^f UNIVERSITY HOSPITAL OF WALES   (United Kingdom)

Author keywords

Congenital myopathy; Diaphragmatic weakness; Respiratory failure

Indexed keywords

BACLOFEN; CARBAMAZEPINE; ETIRACETAM; NEOSTIGMINE; PYRIDOSTIGMINE; TOPIRAMATE; VALPROIC ACID;

ANTERIOR HORN CELL DISEASE; ARM WEAKNESS; ARTICLE; ARTIFICIAL VENTILATION; CLINICAL ARTICLE; CLONIC SEIZURE; DIAPHRAGM PARALYSIS; DYSPNEA; ELECTROMYOGRAM; ELECTROPHYSIOLOGY; FACE MUSCLE; FEEDING DISORDER; FEMALE; GENE; GENE MUTATION; HEAD MOVEMENT; HEAD POSITION; HUMAN; HUMAN TISSUE; IGHMBP2 GENE; LIMB MOVEMENT; MALE; MUSCLE BIOPSY; MUSCLE SPASM; MUSCLE WEAKNESS; MYOPATHY; NEUROMUSCULAR TRANSMISSION; PRESCHOOL CHILD; PRIORITY JOURNAL; RESPIRATORY DISTRESS; RESPIRATORY FAILURE; SCHOOL CHILD; SMARD1 GENE; SMN1 GENE; SPINAL MUSCULAR ATROPHY; STOMACH TUBE; TUBE FEEDING;

CREATINE KINASE; DIAPHRAGM; DNA-BINDING PROTEINS; ELECTROMYOGRAPHY; ENTERAL NUTRITION; EXTREMITIES; FACIAL MUSCLES; FEMALE; GROWTH; HUMANS; INFANT; INFANT, NEWBORN; MOVEMENT; MUSCLE WEAKNESS; MUSCULAR DISEASES; RESPIRATION, ARTIFICIAL; RESPIRATORY MECHANICS; TRANSCRIPTION FACTORS;

EID: 33847146380     PISSN: 09608966     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.nmd.2006.11.002     Document Type: Article

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