Scapuloperoneal spinal muscular atrophy

Definition:

Scapuloperoneal spinal muscular atrophy (SPSMA) is one of the TRPV4-related diseases. They are a heterogeneous group of dominantly inherited disorders with muscle weakness. Mutations in TRPV4 have been linked to these disorders.

References:

[1]. Faisal Fecto, et al. Mutant TRPV4-mediated toxicity is linked to increased constitutive function in axonal neuropathies. J Biol Chem. 2011 May 13;286(19):17281-91. [Content Brief]

[2]. Jin Dai, et al. TRPV4-pathy, a novel channelopathy affecting diverse systems. J Hum Genet. 2010 Jul;55(7):400-2. [Content Brief]

[3]. Magdalena Zimoń, et al. Dominant mutations in the cation channel gene transient receptor potential vanilloid 4 cause an unusual spectrum of neuropathies. Brain. 2010 Jun;133(Pt 6):1798-809. [Content Brief]

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