Charcot-Marie-Tooth disease type 1G

Term ID

DOID:0111560

Synonyms

• CMT1G
• PMP2-related Charcot-Marie-Tooth disease type 1
• PMP2-related Charcot-Marie-Tooth neuropathy type 1
• PMP2-related CMT1
• PMP2-related hereditary motor and sensory neuropathy type 1

Definition

A Charcot-Marie-Tooth disease type 1 characterized by distal muscle weakness and atrophy with onset in the first or second decade of life that has_material_basis_in heterozygous mutation in the PMP2 gene on chromosome 8q21.13. (2)

References

• OMIM:618279
• ORDO:476394

Ontology

Human Disease   ( DOID:0111560 )