A novel mutation of the myelin P0 gene segregating Charcot-Marie-Tooth disease type 1B manifesting as trigeminal nerve thickening
Journal of Neurology, Neurosurgery and Psychiatry
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1q22 Google OMIM PubMed Who named it? [Charcot-Marie-Tooth disease] Charcot-Marie-Tooth disease, demyelinating, type 1B *Gene map locus 1q22 CMT1B Charcot-Marie-Tooth disease, autosomal dominant, with focally folded myelin sheaths, type 1B Charcot-Marie-Tooth disease, demyelinating, type 1B Charcot-Marie-Tooth disease, slow nerve conduction type, linked to Duffy Charcot-Marie-Tooth neuropathy, type 1B HMSN1 HMSN1B Hereditary motor and sensory neuropathy I Hereditary motor and sensory neuropathy IB Peroneal muscular atrophy [Clinical features: decreased motor nerve conduction velocity; segmental demyelination and remyelination with onion bulb formations on nerve biopsy] [Inheritance: autosomal dominant] |
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A novel mutation of the myelin P0 gene segregating Charcot-Marie-Tooth disease type 1B manifesting as trigeminal nerve thickening |
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Journal of Neurology, Neurosurgery and Psychiatry |
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Edited by Aldo Campana,
August 21, 2012
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