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Altered TDP‐43‐dependent splicing in HSPB8‐related distal hereditary motor neuropathy and myofibrillar myopathy - Cortese - 2018 - European Journal of Neurology - Wiley Online Library
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Hereditary Motor and Sensory Neuropathies | Pediatric Annals
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Hereditary Neuropathy Foundation - Could you be 1 of the estimated 3300 patients in the US with the gene causing SORD Deficiency? You may have been diagnosed with CMT2, or distal hereditary
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A SIGMAR1 splice-site mutation causes distal hereditary motor neuropathy | Neurology
A novel WARS mutation (p.Asp314Gly) identified in a Chinese distal hereditary motor neuropathy family - Wang - 2019 - Clinical Genetics - Wiley Online Library