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"Charcot-Marie-Tooth" disease type 5
- ... CMTX4 CHARCOT-MARIE-TOOTH DISEASE, X-LINKED RECESSIVE, 5; CMTX5 ROUSSY-LEVY HEREDITARY AREFLEXIC DYSTASIA CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2D; CMT2D CHARCOT-MARIE-TOOTH DISEASE, TYPE 4C; ...
- ... KH, Green ED. Glycyl tRNA synthetase mutations in Charcot-Marie-Tooth disease type 2D and distal spinal muscular atrophy type V. Am J Hum Genet. 2003 May;72(5):1293-9. doi: 10.1086/375039. Epub 2003 ...
- ... legs. Similar features are seen in individuals with type 1A Charcot-Marie-Tooth disease, although they may appear earlier in people with YUHAL syndrome, often before age 5.Abnormal development of other tissues and organs, such ...