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Both Charcot‐Marie‐Tooth disease type 2D (CMT2D) and distal spinal muscular atrophy type V (dSMA‐V) are GARS1 disease phenotypes involving axonal peripheral neuropathy. Patients often develop clinical symptoms in their teens.… Click to show full abstract
Both Charcot‐Marie‐Tooth disease type 2D (CMT2D) and distal spinal muscular atrophy type V (dSMA‐V) are GARS1 disease phenotypes involving axonal peripheral neuropathy. Patients often develop clinical symptoms in their teens. Herein, we reported a Chinese family with infantile‐onset CMT2D/dSMA‐V.
Keywords:
onset cmt2d;
cmt2d dsma;
infantile onset;
gars1;
dsma;
chinese family
Journal Title: Molecular Genetics & Genomic Medicine
Year Published: 2021
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Journal Title: Molecular Genetics & Genomic Medicine
Year Published: 2021
Link to full text (if available)
Share on Social Media: Sign Up to like & get
recommendations!