Mechanisms of disease and clinical features of mutations of the gene for mitofusin 2: An important cause of hereditary peripheral neuropathy with striking clinical variability in children and adults

Developmental Medicine and Child Neurology

Volumn 52, Issue 4, 2010, Pages 328-330

  Ouvrier, Robert ^a   Grew, Simon ^b,c  

^a CHILDREN S HOSPITAL AT WESTMEAD   (Australia)

^b REDCLIFFE HOSPITAL   (Australia)

^c UNIVERSITY OF QUEENSLAND   (Australia)

Author keywords

[No Author keywords available]

Indexed keywords

GUANOSINE TRIPHOSPHATE PYROPHOSPHOKINASE; MITOFUSIN 2;

AUTOSOMAL DOMINANT INHERITANCE; AUTOSOMAL RECESSIVE INHERITANCE; CLINICAL FEATURE; DISEASE COURSE; GENE MUTATION; GENETIC DISORDER; GENETIC VARIABILITY; HEREDITARY MOTOR SENSORY NEUROPATHY; HUMAN; MOLECULAR DYNAMICS; NERVE CELL NECROSIS; NERVE FIBER DEGENERATION; NUCLEOTIDE SEQUENCE; OPTIC NERVE ATROPHY; PATHOPHYSIOLOGY; PERIPHERAL NEUROPATHY; PRIORITY JOURNAL; PROTEIN FUNCTION; PYRAMIDAL SIGN; REVIEW; WHITE MATTER;

ADOLESCENT; ADULT; CHARCOT-MARIE-TOOTH DISEASE; CHILD; GENETIC PREDISPOSITION TO DISEASE; HUMANS; MEMBRANE PROTEINS; MITOCHONDRIAL PROTEINS; MUTATION; YOUNG ADULT;

EID: 77951153649     PISSN: 00121622     EISSN: 14698749     Source Type: Journal    
DOI: 10.1111/j.1469-8749.2010.03613.x     Document Type: Review

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