Neuromuscular

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

EOM ± PERIOCULAR WEAKNESS in NEUROMUSCULAR DISORDERS


EOM in Myasthenia Gravis
Pseudo-Internuclear Ophthalmoplegia
  

CONGENITAL & HEREDITARY OPHTHALMOPLEGIAS

Congenital Later onset Also see


Oculopharyngeal Muscular Dystrophy 5

  Polyadenylate-binding protein, Nuclear, 1 (PABPN1; PABN1; PABP2) ; Chromosome 14q11.2; Dominant or Recessive
  Second locus in non-French-Canadian (Italian & Norman) families

Oculopharyngodistal Myopathy (OPDM1) 6

  Low density lipoprotein receptor-related protein 12 (LRP12) ; Chromosome 8q22.3; Dominant or Sporadic

Oculopharyngeal Myopathy with Leukodystrophy (OPML1) 6

  LOC642361 /NUTM2B-AS1 ; Chromosome 10q22.3; Dominant

Hereditary Inclusion Body Myopathy with Joint Contractures & Ophthalmoplegia (IBM3; MYPOP) 1

  Myosin heavy chain IIa (MyHC IIa; MYH2) ; Chromosome 17p13.1; Dominant
Return to Myopathy & NMJ Index

References
1. Ann Neurol 1998;44:242-248; PNAS 2000;97:14614-14619
2. Brain 2001;124:522-526
3. JNNP 2004;75:1499-1501, Neurology 2011;76:227–235
4. Neurology 2010;74 (9 Supp 2)
5. FEBS J 2013 Sep;280(17):4230-50, Neuromuscular Disorders 2015; Online August
6. Nat Genet 2019 Jul 22
7/26/2019