HEREDITARY MOTOR SENSORY NEUROPATHIES (HMSN; CMT)
Autosomal DominantAutosomal RecessiveX-LinkedMitochondrialNeuropathy (Hereditary)
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Overview
From WUSTL NeuromuscularCMT & HMSN: Demyelinating Dominant CMT 1A: PMP-22; 17p12 1B: P0 protein; 1q23 1C: LITAF; 16p13 1D: EGR2; 10q21 1E (Deafness) PMP-22: 17p12 P0 protein: 1q23 1F: NEFL; 8p21 1G: PMP2; 8q21 1H: FBLN5; 14q32 1I: POLR3B; 12q23 1J: ITPR3; 6p21 CMT1: c1orf194; 1p13 CMT: ATP1A1; 1p13 HNPP PMP-22 (Deletion or Point); 17p12 KARS; 16q23 HMSN 3 (Dejerine-Sottas) PMP-22; P0; 8q23; EGR2 Thermosensitive PCWH: SOX10; 22q13 Sensory PN + Deaf: GJB3; 1p34 SNCV: ARHGEF10; 8p23 CMT-DIF: GNB4; 3q26 ATXPC: SAMD9L HMSN: HARS; 5q31 HMSN: BAG3; 10q25 Recessive: CMT/AR-CMT1 4A: GDAP1; 8q21 4B1: MTMR2; 11q22 4B2: SBF2; 11
Related Conditions
Shared genesArthrogryposis Multiplex Congenita (AMC)
CMT
Axon: Transport
NUDELJNKSYNAPTIC
CMT 1
DIEPIDEMIOLOGY
Distal infantile spinal muscular atrophy with diaphragm paralysis (HMNR1; DSMA1; SMARD1; HMN 6)
CMT2SIGHMBP2CMT2
EGR2 mutations: CMT 1D & Other phenotypes
CMT2
Hematologic Disorders
ATP6MC1DN30
Neuropathy: CMT Genes & Drugs
CMT2CMT2ALAMIN
Nuclear Protein Disorders: Envelope & Matrix
CMT2
External Resources
Data sourced from the Washington University Neuromuscular Disease Center. For clinical use, always refer to primary sources.