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FLASH GENE

Symbol

NEFL

contributors: mct/pgu - updated : 23-04-2012

HGNC name	neurofilament, light polypeptide
HGNC id	7739

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

ASSOCIATED DISORDERS

corresponding disease(s)

CMT2E , CMT1F

related resource

Mutation Database of Inherited Peripheral Neuropathies

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS

	hNF-LP22S;tTa transgenic (tg) mice recapitulated key features of CMT2E disease, including aberrant hindlimb posture, motor deficits, hypertrophy of muscle fibres and loss of muscle innervation without neuronal loss, and normal distribution of NF proteins along the sciatic nerve of hNF-LP22S; tTa mice was restored upon treatment with doxycycline
	hNF-LE397K mice display progressive muscle atrophy in hind limb muscles without denervation