Neuromuscular

Home, Search, Index, Links, Pathology, Molecules, Syndromes,
Muscle, NMJ, Nerve, Spinal, Ataxia, Antibody & Biopsy, Patient Info


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
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

1/12/2016