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MYOPATHY + CENTRAL NERVOUS SYSTEM (Encephalomyopathy)



Encephalopathy with necrotizing myopathy

  Autosomal recessive

Camera-Marugo-Cohen Syndrome 1



Cerebral Creatine Deficiency Syndrome 3 (CCDS3) 2

  L-arginine:glycine amidinotransferase (GATM; AGAT) ; Chromosome 15q15.3; Recessive

Vici Syndrome

  Ectopic P granules protein 5 homolog (EPG5) ; Chromosome 18q12.3-q21.1; Recessive

Myopathy + CNS 4

  Golgi autoantigen, Golgin subfamily A2 (GOLGA2; GM130) ; Chromosome 9q34.11; Recessive

Myopathy + CNS (PURA syndrome) 5

  Purine-rich element-binding protein A (PURA) ; Chromosome 5q31.3; de novo Dominant

Neurodegeneration, Childhood-onset, Hypotonia, Respiratory insufficiency & Brain imaging abnormalities (CONRIBA)

  Chloride Channel 6 (CLCN6) ; Chromosome 1p36.22; Dominant de novo

Dysmorphisms, Intellectual disability, Developmental disorder, Skeletal muscle pathology 6

  WASH Complex, subunit 4 (WASHC4) ; Chromosome 12q23.3; Recessive
Return to Myopathy & NMJ Index

References
1. J Clin Neuromuscul Dis 2008;9:345-347
2. Neurology 2010;75:186-188, Neuromuscular Disorders 2013; Online June
3. Nature Genetics 2012; Online December
4. Hum Genet 2016 Jan 7
5. Neuropediatrics 2020 Dec 22
6. J Pathol 2021 Oct 2

12/4/2021