Congenital hypomyelinating neuropathy, a long term follow-up study in an affected family

Neuromuscular Disorders

Volumn 18, Issue 1, 2008, Pages 59-62

  Smit, Liesbeth S ^a   Roofthooft, Daniella ^a   van Ruissen, Fred ^b   Baas, Frank ^b   van Doorn, Pieter A ^c  

^a SOPHIA CHILDREN S HOSPITAL   (Netherlands)

^b ACADEMIC MEDICAL CENTER   (Netherlands)

^c ERASMUS MEDICAL CENTER   (Netherlands)

Author keywords

Adult; Congenital hypomyelinating neuropathy; Family case; MPZ gene

Indexed keywords

AREFLEXIA; ARTHROGRYPOSIS; ARTICLE; CASE REPORT; CONGENITAL HYPOMYELINATING NEUROPATHY; ECHOGRAPHY; FEMALE; FOLLOW UP; GENE MUTATION; HUMAN; HYPOKINESIA; MUSCLE ACTION POTENTIAL; MUSCLE HYPOTONIA; NEUROLOGIC EXAMINATION; NEUROPATHY; NEWBORN; PHYSICAL EXAMINATION; PRIORITY JOURNAL; SENSORY DYSFUNCTION;

ADULT; DEMYELINATING DISEASES; DNA MUTATIONAL ANALYSIS; ELECTROMYOGRAPHY; FEMALE; FOLLOW-UP STUDIES; GENETIC MARKERS; GENETIC SCREENING; HETEROZYGOTE; HUMANS; INFANT, NEWBORN; MALE; MICROSCOPY, ELECTRON; MUTATION; MYELIN P0 PROTEIN; MYELIN SHEATH; NEURAL CONDUCTION; PERIPHERAL NERVES; PERIPHERAL NERVOUS SYSTEM DISEASES; TIME FACTORS;

EID: 38649099040     PISSN: 09608966     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.nmd.2007.07.011     Document Type: Article

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