Skip navigation

Disease Myopathies, Nemaline

Name Myopathies, Nemaline
Synonyms Adult Onset Nemaline Myopathy | Autosomal Dominant Nemaline Myopathy | Autosomal Recessive Nemaline Myopathy | Childhood Onset Nemaline Myopathy | Late Onset Nemaline Myopathy | Myopathies, Rod | Myopathies, Rod-Body | Myopathy, Nemaline | Myopathy, Rod | Myopathy, Rod Body | Myopathy, Rod-Body | Nemaline Body Disease | Nemaline Myopathies | Nemaline Myopathy | Nemaline Myopathy, Adult Onset | Nemaline Myopathy, Autosomal Dominant | Nemaline Myopathy, Autosomal Recessive | Nemaline Myopathy, Childhood Onset | Nemaline Myopathy, Late Onset | Nemaline Rod Disease | Rod Body Disease | Rod-Body Myopathies | Rod Body Myopathy | Rod-Body Myopathy | Rod Myopathies | Rod Myopathy
Definition A group of inherited congenital myopathic conditions characterized clinically by weakness, hypotonia, and prominent hypoplasia of proximal muscles including the face. Muscle biopsy reveals large numbers of rod-shaped structures beneath the muscle fiber plasma membrane. This disorder is genetically heterogeneous and may occasionally present in adults. (Adams et al., Principles of Neurology, 6th ed, p1453)
Categories Musculoskeletal disease | Nervous system disease
MeSH® ID D017696
External Links

Top ↑ Ancestors

1. DiseasesMusculoskeletal Diseases Has associated chemicals Has associated genes Has associated exposure references Muscular Diseases Has associated chemicals Has associated genes Myopathies, Structural, Congenital Has associated chemicals Has associated genes Myopathies, Nemaline Has associated chemicals Has associated genes
2. DiseasesNervous System Diseases Has associated chemicals Has associated genes Has associated exposure references Neuromuscular Diseases Has associated chemicals Has associated genes Has associated exposure references Muscular Diseases Has associated chemicals Has associated genes Myopathies, Structural, Congenital Has associated chemicals Has associated genes Myopathies, Nemaline Has associated chemicals Has associated genes

Top ↑ Descendants

Myopathies, Nemaline Has associated chemicals Has associated genes
  Cardioneuromyopathy with Hyaline Masses and Nemaline Rods
  Intranuclear Rod Myopathy
  Myopathy, Actin, Congenital, with Excess of Thin Myofilaments
  Nemaline myopathy 1 Has associated chemicals Has associated genes
  NEMALINE MYOPATHY 10 Has associated chemicals Has associated genes
  NEMALINE MYOPATHY 11, AUTOSOMAL RECESSIVE Has associated chemicals Has associated genes
  Nemaline Myopathy 2 Has associated chemicals Has associated genes
  Nemaline myopathy 3 Has associated chemicals Has associated genes
  Nemaline myopathy 4 Has associated chemicals Has associated genes
  Nemaline myopathy 5 Has associated chemicals Has associated genes
  Nemaline myopathy 6 Has associated chemicals Has associated genes
  Nemaline Myopathy 7 Has associated chemicals Has associated genes
  NEMALINE MYOPATHY 8 Has associated chemicals Has associated genes
  NEMALINE MYOPATHY 9 Has associated chemicals Has associated genes