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Spinal muscular atrophy scapuloperoneal
LE WE PMID CA
Spinal muscular atrophy scapuloperoneal11735Spinal muscular atrophy scapuloperoneal

Charcot Marie Tooth disease type 2C

Spinal muscular atrophy congenital distal

Spinal muscular atrophy scapuloperoneal

TRPV4

2010  
1
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  
2
Alterations in the ankyrin domain of TRPV4 cause congenital distal SMA, scapuloperoneal SMA and HMSN2C.
[20037588] Nat Genet 42(2): 160-4 (2010)
2010  
3
Scapuloperoneal spinal muscular atrophy and CMT2C are allelic disorders caused by alterations in TRPV4.
[20037587] Nat Genet 42(2): 165-9 (2010)

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All Medline data shown were primarily retrieved from MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine.


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