Neuropathy, congenital hypomyelinating

*Gene map locus 1q22, 10q21.1-q22.1

CHN

CMT4E

Charcot-Marie-Tooth disease, type 4E

Charcot-Marie-Tooth neuropathy, type 4E

Congenital hypomyelinating neuropathy

[Clinical features: distal muscle weakness; hypotonia; areflexia; slow nerve conduction; absence of large myelinated nerve fibers]

[Inheritance: autosomal recessive or autosomal dominant]


Congenital hypomyelinating neuropathy	Congenital hypomyelinating neuropathy	Congenital Hypomyelination Neuropathy in a Newborn Infant: Unusual Cause of Diaphragmatic and Vocal Cord Paralyses
Indian Pediatrics	Indian Pediatrics	Pediatrics

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Edited by Aldo Campana, August 21, 2012