Charcot-Marie-Tooth Disease, Demyelinating, Type 1d (CMT1D)

Charcot-Marie-Tooth Disease, Demyelinating, Type 1d(来自ICD-11)
别称:
Charcot-Marie-Tooth Disease Type 1d
Charcot-Marie-Tooth Disease, Type 1d
Cmt1d
Hmsn Id
Hmsn1d
Hereditary Motor and Sensory Neuropathy 1d
Charcot-Marie-Tooth Neuropathy Type 1d
Charcot-Marie-Tooth Disease Demyelinating Type 1d
Charcot-Marie-Tooth Disease, Demyelinating, 1d
Hereditary Motor and Sensory Neuropathy Id
Charcot-Marie-Tooth Neuropathy, Type 1d
Charcot-Marie-Tooth Disease, Type Id
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Charcot-Marie-Tooth Disease, Demyelinating, Type 1d, also known as charcot-marie-tooth disease type 1d, is related to tooth disease and charcot-marie-tooth disease, demyelinating, type 1b. An important gene associated with Charcot-Marie-Tooth Disease, Demyelinating, Type 1d is EGR2 (Early Growth Response 2), and among its related pathways/superpathways are Intracellular trafficking proteins involved in CMT neuropathy and EGR2 and SOX10-mediated initiation of Schwann cell myelination. Affiliated tissues include skeletal muscle and peripheral nerve, and related phenotypes are peripheral neuropathy and decreased motor nerve conduction velocity
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MALACARDS
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Infant
--
14
102
5

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