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The overlap of CMT, HSAN, dHMN, HSP, episodic pain syndrome, and related disorders. Diseases: CMT, Charcot–Marie–Tooth disease (CMT1,
demyelinating, autosomal dominant; CMT2, axonal, autosomal dominant or recessive; CMT4, demyelinating, autosomal recessive; CMTX, X-linked; ICMT, intermediate CMT); dHMN, distal hereditary motor neuropathies; HSN, hereditary sensory neuropathies; HSP, hereditary spastic paraplegia. Genes:
AARS, alanyl-trRNA synthetase; ATL, atlastin; BSCL2, Berardinelli–Seip congenital lipodystrophy type 2; DNM2, dynamin 2; DNMT1, DNA
methyltransferase 1; DYNCH1H1, cytoplasmic dynein 1 heavy chain 1; DYS, dystonin; EGR2, early-growth response 2; FAM134B, family with sequence
similarity 134, member B; GARS, glycyl-tRNA synthetase; GDAP1, ganglioside-induced differentiation-associated protein 1; GJB1, gap junction
Source: Charcot–Marie–Tooth Disease and Related Disorders, Neuromuscular Disorders, 2e
B1/connexin-32; HSJ1 (or DNAJB2), heat-shock protein J1 (or DNAJ Hsp40); HSPB1 (or HSP27), heat-shock 27-kDa protein 1; HSPB8 (or HSP22), heatRussell JA.
Neuromuscular
2e; 2015
Available
at:1;http://mhmedical.com/
May 03, 2017
shock 22-kDaCitation:
protein Amato
8; HK6,AA,
hexokinase
6; HINT1,
histidine Disorders,
triad nucleotide
binding
protein
IFN2, inverted formin Accessed:
2; LITAF, lipopolysaccharide-induced
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tumor necrosis factor-alpha factor; LMNA, lamin A/C nuclear envelope protein; LSRAM1, leucine-rich repeat and sterile alpha motif containing 1; MED25,
mediator complex subunit; MFN2, mitofusin 2; MTMR2, myotubularin-related protein 2; SBF2, SET-binding factor 2; SH3TC2, SH3 domain and
tetratricopeptide repeat domain 2; NDRG1, N-myc downstream-regulated gene 1; NEFL, neurofilament light chain; NGF, nerve growth factor; MPZ, myelin