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Metadata
DOID DOID:0110191
Name Charcot-Marie-Tooth disease type 4B1
Definition A Charcot-Marie-Tooth disease type 4 that has_material_basis_in mutation in the gene encoding the myotubularin-related protein-2 (MTMR2).
https://www.ncbi.nlm.nih.gov/pubmed/10802647
Synonyms

autosomal recessive Charcot-Marie-Tooth disease with focally folded myelin sheaths type 4B1 [EXACT]

Charcot-Marie-Tooth neuropathy type 4B1 [EXACT]

CMT4B1 [EXACT]

Xrefs

ICD10CM:G60.0

OMIM:601382

ORDO:99955

Relationships

is_a Charcot-Marie-Tooth disease type 4

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