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Results 1 - 10 of 35 for Atrophic muscular disease
  1. Spinal and bulbar muscular atrophy 
    ... DJ, Spriggs EL. Expression of X-linked bulbospinal muscular atrophy (Kennedy disease) in two homozygous women. Neurology. 2002 Sep 10; ...
    https://medlineplus.gov/.../spinal-and-bulbar-muscular-atrophy - Genetics
  2. Spinal muscular atrophy 
    ... overlap between the types. Other forms of spinal muscular atrophy and related motor neuron diseases, such as spinal muscular atrophy with progressive myoclonic ...
    https://medlineplus.gov/genetics/condition/spinal-muscular-atrophy - Genetics
  3. Farber lipogranulomatosis 
    ... pathogenic variants associated with acid ceramidase deficiency: Farber disease and spinal muscular atrophy with progressive myoclonic epilepsy. Hum Mutat. 2020 Sep; ...
    https://medlineplus.gov/genetics/condition/farber-lipogranulomatosis - Genetics
  4. SMN2 gene 
    ... amid diversity: Multi-study proteomic identification of conserved disease mechanisms in spinal muscular atrophy. Neuromuscul Disord. 2016 Sep;26(9):560-9. ...
    https://medlineplus.gov/genetics/gene/smn2 - Genetics
  5. ASAH1 gene 
    ... pathogenic variants associated with acid ceramidase deficiency: Farber disease and spinal muscular atrophy with progressive myoclonic epilepsy. Hum Mutat. 2020 Sep; ...
    https://medlineplus.gov/genetics/gene/asah1 - Genetics
  6. SMN1 gene 
    ... amid diversity: Multi-study proteomic identification of conserved disease mechanisms in spinal muscular atrophy. Neuromuscul Disord. 2016 Sep;26(9):560-9. ...
    https://medlineplus.gov/genetics/gene/smn1 - Genetics
  7. Charcot-Marie-Tooth disease 
    ... CMT Hereditary motor and sensory neuropathy HMSN Peroneal muscular atrophy PMA Genetic Testing Registry: Charcot-Marie-Tooth disease Charcot-Marie-Tooth disease/Hereditary motor and sensory ...
    https://medlineplus.gov/.../condition/charcot-marie-tooth-disease - Genetics
  8. TRPV4 gene 
    ... spectrum of related conditions includes Charcot-Marie-Tooth disease type 2C, congenital distal spinal muscular atrophy, which is characterized by weakness of muscles in ...
    https://medlineplus.gov/genetics/gene/trpv4 - Genetics
  9. GARS1 gene 
    ... Glycyl tRNA synthetase mutations in Charcot-Marie-Tooth disease type 2D and distal spinal muscular atrophy type V. Am J Hum Genet. 2003 May; ...
    https://medlineplus.gov/genetics/gene/gars1 - Genetics
  10. Distal hereditary motor neuropathy, type V 
    ... Glycyl tRNA synthetase mutations in Charcot-Marie-Tooth disease type 2D and distal spinal muscular atrophy type V. Am J Hum Genet. 2003 May; ...
    https://medlineplus.gov/...distal-hereditary-motor-neuropathy-type-v - Genetics
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