LE WE PMID CA
Charcot Marie Tooth disease type 2C11739Charcot Marie Tooth Syndrom 2C

AARS

Brachyolmia

Calcium (Hypercalciemia)

Charcot Marie Tooth disease type 2C

HSPB1

MFN2

NEFL

Spinal muscular atrophy congenital distal

Spinal muscular atrophy scapuloperoneal

TRPV4

2010  
1
2010  
2
Mutations in TRPV4 cause Charcot-Marie-Tooth disease type 2C.
[20037586] Nat Genet 42(2): 170-4 (2010)
2011  
3
TRPV4 mutations and cytotoxic hypercalcemia in axonal Charcot-Marie-Tooth neuropathies.
[21288981] Neurology 76(10): 887-94 (2011)
2010  
4
CMT2C with vocal cord paresis associated with short stature and mutations in the TRPV4 gene.
[21115951] Neurology 75(22): 1968-75 (2010)
2011  
5
The mutational spectrum in a cohort of Charcot-Marie-Tooth disease type 2 among the Han Chinese in Taiwan.
[22206013] PLoS One 6(12): e29393 (2011)
2010  
6
Scapuloperoneal spinal muscular atrophy and CMT2C are allelic disorders caused by alterations in TRPV4.
[20037587] Nat Genet 42(2): 165-9 (2010)
2012  
7
Exome sequencing identifies a novel TRPV4 mutation in a CMT2C family.
[22675077] Neurology 79(2): 192-4 (2012)
2010  
8
Dominant mutations in the cation channel gene transient receptor potential vanilloid 4 cause an unusual spectrum of neuropathies.
[20460441] Brain 133(Pt 6): 1798-809 (2010)
2010  
9
Alterations in the ankyrin domain of TRPV4 cause congenital distal SMA, scapuloperoneal SMA and HMSN2C.
[20037588] Nat Genet 42(2): 160-4 (2010)

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