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Spinal muscular atrophy congenital distal
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Spinal muscular atrophy congenital distal11736Spinal muscular atrophy congenital distal

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)
2012  
3
TRPV4 mutations in children with congenital distal spinal muscular atrophy.
[22526352] Neurogenetics 13(3): 195-203 (2012)
2012  
4
Muscle MRI in TRPV4-related congenital distal SMA.
[22291064] Neurology 78(5): 364-5 (2012)

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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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