Associated Papers
Deciphering DST-associated disorders: biallelic variants affecting DST-b cause a congenital myopathy.
Jacob M et al.
Brain : a Journal of Neurology, 2026
A novel homozygous DST variant causes hereditary sensory and autonomic neuropathy in a Pakistani family.
Munir A et al.
Human Genome Variation, 2025
DST variants are responsible for neurogenic arthrogryposis multiplex congenita enlarging the spectrum of type VI hereditary sensory autonomic neuropathy.
Capri Y et al.
Clinical Genetics, 2023
Pathogenic DST sequence variants result in either epidermolysis bullosa simplex (EBS) or hereditary sensory and autonomic neuropathy type 6 (HSAN-VI).
Khalesi R et al.
Experimental Dermatology, 2022
A novel variant in the dystonin gene causing hereditary sensory autonomic neuropathy type VI in a male infant: Case report and literature review.
Sakaria RP et al.
American Journal of Medical Genetics. Part A, 2022
Isoform-specific loss of dystonin causes hereditary motor and sensory neuropathy.
Motley WW et al.
Neurology. Genetics, 2020
Novel Compound Heterozygous DST Variants Causing Hereditary Sensory and Autonomic Neuropathies VI in Twins of a Chinese Family.
Jin JY et al.
Frontiers in Genetics, 2020
Recessive mutations in the neuronal isoforms of DST, encoding dystonin, lead to abnormal actin cytoskeleton organization and HSAN type VI.
Fortugno P et al.
Human Mutation, 2019
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