Charcot-Marie-Tooth disease type 1A; hereditary motor & sensory neuropathy 1A (CMT1A)

see Charcot-Marie-Tooth disease type 1 Genetics: - autosomal dominant - associated with defects in PMP22 Laboratory: - PMS2 gene deletion, duplication & mutation analysis

Database Correlations

OMIM correlations MORBIDMAP 601097

References

Medical Knowledge Self Assessment Program (MKSAP) 11, American College of Physicians, Philadelphia 1998