Genetic axonal neuropathies and neuronopathies of pre-natal and infantile onset

Journal of the Peripheral Nervous System

Volumn 17, Issue 3, 2012, Pages 285-300

  Yiu, Eppie M ^a,b   Ryan, Monique M ^a,b,c  

^a ROYAL CHILDREN'S HOSPITAL   (Australia)

^b MURDOCH CHILDREN'S RESEARCH INSTITUTE   (Australia)

^c UNIVERSITY OF MELBOURNE   (Australia)

Author keywords

axonal; Charcot Marie Tooth disease; infantile; paediatric; peripheral neuropathy

Indexed keywords

DEOXYGUANOSINE KINASE; DNA DIRECTED DNA POLYMERASE GAMMA; GIGANOXIN; IMMUNOGLOBULIN MU BINDING PROTEIN 2; MITOFUSIN 2; PROTEIN; SURVIVAL MOTOR NEURON PROTEIN 1; SYNTHESIS OF CYTOCHROME OXIDASE 2 PROTEIN; THYMIDINE KINASE 2; UNCLASSIFIED DRUG; VANILLOID RECEPTOR 4;

AUTOSOMAL RECESSIVE DISORDER; BROWN VIALETTO VAN LAERE SYNDROME; CARDIOMYOPATHY; CORPUS CALLOSUM AGENESIS; DISORDERS OF MITOCHONDRIAL FUNCTIONS; FAZIO LONDE DISEASE; FRACTURE; GENE MUTATION; GIANT AXONAL NEUROPATHY; HEREDITARY MOTOR SENSORY NEUROPATHY; HUMAN; INFANTILE AXONAL NEUROPATHY; INFANTILE ONSET SPINOCEREBELLAR ATAXIA; INFANTILE SPINAL MUSCULAR ATROPHY WITH CONGENITAL FRACTURE; LIVER DISEASE; MOTOR NEUROPATHY; MUSCLE ACTION POTENTIAL; NEUROAXONAL DYSTROPHY; NEUROPATHY; OPTIC NERVE ATROPHY; PRIORITY JOURNAL; RESPIRATORY FAILURE; REVIEW; SPINAL MUSCULAR ATROPHY; SPINAL MUSCULAR ATROPHY WITH PONTOCEREBELLAR HYPOPLASIA; SPINAL MUSCULAR ATROPHY WITH RESPIRATORY DISTRESS TYPE 1; X LINKED INFANTILE SPINAL MUSCULAR ATROPHY;

AGE OF ONSET; AXONS; GIANT AXONAL NEUROPATHY; HEREDITARY SENSORY AND MOTOR NEUROPATHY; HUMANS; INFANT, NEWBORN; MUTATION; PERIPHERAL NERVOUS SYSTEM DISEASES; PRENATAL DIAGNOSIS;

EID: 84866361930     PISSN: 10859489     EISSN: 15298027     Source Type: Journal    
DOI: 10.1111/j.1529-8027.2012.00412.x     Document Type: Review

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