11q13, 7p15   GeneReviews   Google   OMIM   PubMed   [Spinal muscular atrophy]

Spinal muscular atrophy, distal, type V

*Gene map locus 11q13, 7p15
DSMAV
HMN V
Neuronopathy, distal hereditary motor, type V
Spinal muscular atrophy, distal, with upper limb predominance
[Clinical features: predominant wasting and weakness restricted to the hands]
[Inheritance: autosomal dominant]

Phenotypic and genotypic heterogeneity in hereditary motor neuronopathy type V: A clinical, electrophysiological and genetic study
Phenotypic and genotypic heterogeneity in hereditary motor neuronopathy type V: A clinical, electrophysiological and genetic study
Phenotypic spectrum of disorders associated with glycyl-tRNA synthetase mutations
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Phenotypic spectrum of disorders associated with glycyl-tRNA synthetase mutations
The phenotype of motor neuropathies associated with BSCL2 mutations is broader than Silver syndrome and distal HMN type V
 
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Edited by Aldo Campana, March 14, 2010