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12 results
  1. GARS1-Associated Axonal Neuropathy - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1242
    ... neurologic conditions. Charcot-Marie-Tooth disease type 2 (CMT2). Other subtypes of CMT2 have a wide range of onset age and ... Marie-Tooth Hereditary Neuropathy Overview ). Generally, individuals with CMT2 present with distal muscular atrophy, loss of reflexes, ...
  2. Charcot-Marie-Tooth disease: MedlinePlus Genetics 
    https://medlineplus.gov/.../condition/charcot-marie-tooth-disease
    ... the health of the nerve fiber. Type 2 (CMT2) is characterized by abnormalities in the fiber, or ... the strength of the nerve impulse. People with CMT2 may develop amyotrophic lateral sclerosis (ALS), a condition ...
  3. TRPV4-Associated Disorders - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK201366
    ... that 13 (<1%) of 422 individuals with a CMT2 (axonal CMT) phenotype were heterozygous for a TRPV4 ... increased to 9% in those with an unusual CMT2 presentation (e.g., vocal fold and diaphragmatic paresis). ...
  4. xmlghr-summaries.xml 
    https://medlineplus.gov/download/ghr-summaries.xml
    ... the health of the nerve fiber. Type 2 (CMT2) is characterized by abnormalities in the fiber, or ... the strength of the nerve impulse. People with CMT2 may develop amyotrophic lateral sclerosis (ALS), a condition ...
  5. SPTLC1-Related Hereditary Sensory Neuropathy - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1390
    ... Disorders with similar phenotypes are two forms of CMT2 : CMT2B, a motor and sensory neuropathy with severe ...
  6. BSCL2 gene: MedlinePlus Genetics 
    https://medlineplus.gov/genetics/gene/bscl2
    ... for genetic heterogeneity of distal HMN type V, CMT2 with predominant hand involvement and Silver syndrome. J ...
  7. GDAP1-Related Hereditary Motor and Sensory Neuropathy - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1539
    ... as CMT2K) have been described. See CMT Overview : CMT2 [ Claramunt et al 2005 , Chung et al 2008 , ...
  8. KIF1B gene: MedlinePlus Genetics 
    https://medlineplus.gov/genetics/gene/kif1b
    ... This Health Condition Other Names for This Gene CMT2 CMT2A HMSNII KIAA0591 KIAA1488 KIF1B_HUMAN KLP Additional ...
  9. Distal hereditary motor neuropathy, type V: MedlinePlus Genetics 
    https://medlineplus.gov/...distal-hereditary-motor-neuropathy-type-v
    ... for genetic heterogeneity of distal HMN type V, CMT2 with predominant hand involvement and Silver syndrome. J ...