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Publication Detail
Severe infantile neuropathy with diaphragmatic weakness and its relationship to SMARD1
  • Publication Type:
    Journal article
  • Publication Sub Type:
  • Authors:
    Pitt M, Houlden H, Jacobs J, Mok Q, Harding B, Reilly M, Surtees R
  • Publication date:
  • Pagination:
    2682, 2692
  • Journal:
  • Volume:
  • Issue:
  • Print ISSN:
  • Keywords:
    analysis, As, Association, atrophy, Axons, Biopsy, BIRTH, Birth Weight, BIRTH-WEIGHT, Brain, Carrier Proteins, case report, characteristics, classification, clinical, CORD, CRITERIA, DEFECT, DEVELOPED, diagnosis, DIAGNOSTIC CRITERIA, DIAGNOSTIC-CRITERIA, DISTRESS, DO, FAILURE, Female, functioning, GENE, GENE PRODUCT, GENE-PRODUCT, genetic, genetics, groups, Hereditary Motor and Sensory Neuropathies, Heterogeneity, histopathological, IM, IMMUNOGLOBULIN, infant, Infant, Newborn, Infantile, INFANTS, LA, literature, Low, Low birth weight, LOW-BIRTH-WEIGHT, Male, Muscle, Skeletal, Mutation, MUTATIONS, NEED, nerve, nerve conduction, Nerve Fibers, Myelinated, Neural Conduction, neuropathy, ONSET, Other, PALSY, pathology, Patient, patients, positive, product, PROTEIN, Proteins, relationship, report, RESPIRATORY, Respiratory Distress Syndrome, Respiratory Paralysis, RESPIRATORY-FAILURE, SINGLE, size, spinal cord, Spinal Muscular Atrophies of Childhood, SPINAL MUSCULAR ATROPHY, Sural Nerve, TYPE-1, VELOCITY, WEIGHT
  • Notes:
    DA - 20031110 IS - 0006-8950 LA - eng PT - Case Reports PT - Journal Article RN - 0 (Carrier Proteins) RN - 0 (IGHMBP2 gene product) SB - AIM SB - IM
No abstract found
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Department of Neuromuscular Diseases
UCL GOS Institute of Child Health
Department of Neuromuscular Diseases
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