Hereditary motor and sensory neuropathy with absence of large myelinated fibers due to absence of large neurons in dorsal root ganglia and anterior horns, clinically associated with deafness, mental retardation, and epilepsy (HMSN-ADM)

Journal of the Peripheral Nervous System

Volumn 5, Issue 3, 2000, Pages 147-157

  Müller, Harald D ^a   Mugler, Michael ^a   Ramaekers, Vincent T ^a   Schröder, J Michael ^a  

^a UNIVERSITY HOSPITAL RWTH AACHEN   (Germany)

Author keywords

Deafness; Deficiency of large motor and sensory neurons; Dentate nucleus; Epilepsy; Hereditary motor and sensory neuropathy; Mental retardation

Indexed keywords

ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CASE REPORT; CHILD; CLINICAL FEATURE; DISEASE ASSOCIATION; EPILEPSY; FEMALE; HEARING IMPAIRMENT; HEREDITARY MOTOR SENSORY NEUROPATHY; HUMAN; MENTAL DEFICIENCY; MUSCLE BIOPSY; MYELINATED NERVE; NERVE BIOPSY; PRIORITY JOURNAL; SPINAL CORD VENTRAL HORN; SPINAL GANGLION; SURAL NERVE;

ANTERIOR HORN CELLS; CEREBELLAR NUCLEI; CHILD, PRESCHOOL; DEAFNESS; EPILEPSY; FATAL OUTCOME; FEMALE; GANGLIA, SPINAL; HEREDITARY MOTOR AND SENSORY NEUROPATHIES; HUMANS; INFANT; MENTAL RETARDATION; MOTOR NEURONS; NERVE FIBERS, MYELINATED; NEURONS, AFFERENT;

EID: 0033804238     PISSN: 10859489     EISSN: None     Source Type: Journal    
DOI: 10.1046/j.1529-8027.2000.00020.x     Document Type: Article

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