Charcot-Marie-Tooth Disease, Type 4k (CMT4K)

Charcot-Marie-Tooth Disease, Type 4k(来自ICD-11)

别称:

Charcot-Marie-Tooth Disease Type 4k

Cmt4k

Charcot-Marie-Tooth Neuropathy, Demyelinating, Autosomal Recessive, Type 4k

Charcot-Marie-Tooth Disease, Demyelinating, Autosomal Recessive, Type 4k

Surf1-Related Severe Demyelinating Charcot-Marie-Tooth Disease

Surf1-Related Charcot-Marie-Tooth Disease Type 4

Surf1-Related Cmt4

Autosomal Recessive Demyelinating Charcot-Marie-Tooth Neuropathy Type 4k

Autosomal Recessive Demyelinating Charcot-Marie-Tooth Disease Type 4k

Charcot-Marie-Tooth Disease, Demyelinating, Type 4k

Charcot-Marie-Tooth Neuropathy, Type 4k

Charcot-Marie-Tooth Disease 4k

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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Charcot-Marie-Tooth Disease, Type 4k, also known as charcot-marie-tooth disease type 4k, is related to mitochondrial complex v deficiency, mitochondrial type 1 and isolated complex iii deficiency. An important gene associated with Charcot-Marie-Tooth Disease, Type 4k is SURF1 (SURF1 Cytochrome C Oxidase Assembly Factor), and among its related pathways/superpathways are Metabolism and Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins.. Affiliated tissues include brain and skeletal muscle, and related phenotypes are ataxia and hearing impairment

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