Charcot-Marie-Tooth Disease X-Linked Recessive 4 (CMTX4)

Charcot-Marie-Tooth Disease X-Linked Recessive 4(来自ICD-11)
别称:
X-Linked Charcot-Marie-Tooth Disease Type 4
Cowchock Syndrome
Cmtx4
Cmt4x
Axonal Motor Sensory Neuropathy with Deafness and Mental Retardation
Charcot-Marie-Tooth Disease with Deafness and Mental Retardation
Namsd
Nadmr
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Charcot-Marie-Tooth Disease X-Linked Recessive 4, also known as x-linked charcot-marie-tooth disease type 4, is related to charcot-marie-tooth disease, x-linked recessive, 4, with or without cerebellar ataxia and mitochondrial encephalomyopathy. An important gene associated with Charcot-Marie-Tooth Disease X-Linked Recessive 4 is AIFM1 (Apoptosis Inducing Factor Mitochondria Associated 1), and among its related pathways/superpathways is Peroxisomal lipid metabolism. Affiliated tissues include skeletal muscle and brain, and related phenotypes are skeletal muscle atrophy and decreased nerve conduction velocity
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MALACARDS
XL
XLD
Newborn
<1/1000000
24
102
6

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