Top Tweets for #DHMN
Homozygous loss-of-function #RTN2 variants in 7 families with distal hereditary motor neuropathy (#dHMN) using exome, genome and Sanger sequencing coupled with deep-phenotyping. #RareDisease #GeneticDiagnosis 🧬 A great effort led by @RMaroofian
Maroofian et al. identify a distinct form of autosomal recessive distal hereditary motor neuropathy with pyramidal features associated with reticulon-2 deficiency. https://t.co/1dVHvV6LfY
Do you have #CMT2 or #dHMN with an unknown genetic cause of disease? You may have #SORD Deficiency. Testing takes a few minutes. Learn more by emailing: [email protected] #SORDDeficiency #charcotmarietooth #CMT #cmtneuropathy #cmtwegotthis
Do you have #CMT2 or #dHMN with an unknown #genetic cause of disease? You may have #SORD
Deficiency. Testing only takes a few minutes. Learn more by emailing: [email protected]
#SORDDeficiency #charcotmarietooth #CMT #cmtausa #cmtwegotthis
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 motor neuropathy (#dHMN). Join us as we learn more about #SORDDeficiency: https://t.co/ymXqhpm5L3
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