Qualitative or quantitative protein defects in neuromuscular diseases

Part of

Sub-types of Qualitative or quantitative protein defects in neuromuscular diseases

• Sarcoglycanopathy 3 trials · 10 incl. sub-types
  4 sub-types

  • Qualitative or quantitative defects of beta-sarcoglycan 0 trials · 5 incl. sub-types Sub-types →
  • Qualitative or quantitative defects of gamma-sarcoglycan 1 trial · 4 incl. sub-types Sub-types →
  • Qualitative or quantitative defects of alpha-sarcoglycan 0 trials · 3 incl. sub-types Sub-types →
  • Qualitative or quantitative defects of delta-sarcoglycan 0 trials · 2 incl. sub-types Sub-types →
• Neuromuscular disease caused by qualitative or quantitative defects of alpha-dystroglycan 0 trials · 8 incl. sub-types
  1 sub-type

  • Qualitative or quantitative defects of protein involved in O-glycosylation of alpha-dystroglycan 0 trials · 8 incl. sub-types Sub-types →
• Neuromuscular disease caused by qualitative or quantitative defects of dystrophin 4 trials · 5 incl. sub-types
  2 sub-types

  • Dilated cardiomyopathy 3B 1 trial
  • Isolated asymptomatic elevation of creatine phosphokinase 0 trials
• Neuromuscular disease caused by qualitative or quantitative defects of titin 0 trials · 4 incl. sub-types
  1 sub-type

  • TTN-related myopathy 2 trials · 4 incl. sub-types Sub-types →
• Neuromuscular disease caused by qualitative or quantitative defects of tropomyosin 0 trials · 4 incl. sub-types
  5 sub-types

  • TPM2-related myopathy 1 trial · 3 incl. sub-types Sub-types →
  • Childhood-onset nemaline myopathy 1 trial · 2 incl. sub-types Sub-types →
  • TPM3-related myopathy 1 trial Sub-types →
  • Intermediate nemaline myopathy 0 trials Sub-types →
  • Typical nemaline myopathy 0 trials Sub-types →
• Neuromuscular disease caused by qualitative or quantitative defects of dysferlin 0 trials · 3 incl. sub-types
  4 sub-types

  • Autosomal recessive limb-girdle muscular dystrophy type 2B 3 trials
  • Miyoshi muscular dystrophy 1 0 trials
  • Congenital myopathy, Paradas type 0 trials
  • Distal myopathy with anterior tibial onset 0 trials
• Neuromuscular disease caused by qualitative or quantitative defects of alpha-actin 0 trials · 2 incl. sub-types
  5 sub-types

  • Childhood-onset nemaline myopathy 1 trial · 2 incl. sub-types Sub-types →
  • Severe congenital nemaline myopathy 0 trials · 1 incl. sub-types Sub-types →
  • Adult-onset nemaline myopathy 0 trials
  • Intermediate nemaline myopathy 0 trials Sub-types →
  • Typical nemaline myopathy 0 trials Sub-types →
• Neuromuscular disease caused by qualitative or quantitative defects of nebulin 0 trials · 2 incl. sub-types
  5 sub-types

  • Childhood-onset nemaline myopathy 1 trial · 2 incl. sub-types Sub-types →
  • Severe congenital nemaline myopathy 0 trials · 1 incl. sub-types Sub-types →
  • Adult-onset nemaline myopathy 0 trials
  • Intermediate nemaline myopathy 0 trials Sub-types →
  • Typical nemaline myopathy 0 trials Sub-types →
• Collagen 6-related myopathy 1 trial
  3 sub-types

  • Bethlem myopathy 1A 0 trials
  • Ullrich congenital muscular dystrophy 1A 0 trials
  • Myosclerosis 0 trials
• Neuromuscular disease caused by qualitative or quantitative defects of myofibrillar proteins 0 trials · 1 incl. sub-types
  4 sub-types

  • Qualitative or quantitative defects of desmin 0 trials · 1 incl. sub-types Sub-types →
  • Qualitative or quantitative defects of alphaB-cristallin 0 trials
  • Qualitative or quantitative defects of filamin C 0 trials Sub-types →
  • Qualitative or quantitative defects of protein ZASP 0 trials Sub-types →
• Neuromuscular disease caused by qualitative or quantitative defects of plectin 0 trials · 1 incl. sub-types
  2 sub-types

  • Autosomal recessive limb-girdle muscular dystrophy type 2Q 1 trial
  • Epidermolysis bullosa simplex 5B, with muscular dystrophy 0 trials
• Neuromuscular disease caused by qualitative or quantitative defects of selenoprotein N1 0 trials · 1 incl. sub-types
  2 sub-types

  • Multiminicore myopathy 1 trial Sub-types →
  • Rigid spine syndrome 0 trials · 1 incl. sub-types Sub-types →
• Neuromuscular disease caused by qualitative or quantitative defects of telethonin 0 trials · 1 incl. sub-types
  2 sub-types

  • Autosomal recessive limb-girdle muscular dystrophy type 2G 1 trial
  • Hypertrophic cardiomyopathy 25 0 trials
• Alpha-actinopathy 0 trials
  4 sub-types

  • Cap myopathy 0 trials
  • Congenital myopathy 2a, typical, autosomal dominant 0 trials
  • Progressive scapulohumeroperoneal distal myopathy 0 trials
  • Zebra body myopathy 0 trials
• Caveolinopathy 0 trials
  1 sub-type

  • Isolated asymptomatic elevation of creatine phosphokinase 0 trials
• Neuromuscular disease caused by qualitative or quantitative defects of TRIM32 0 trials
  2 sub-types

  • Bardet-Biedl syndrome 11 0 trials
  • Autosomal recessive limb-girdle muscular dystrophy type 2H 0 trials
• Neuromuscular disease caused by qualitative or quantitative defects of beta-myosin heavy chain (MYH7) 0 trials
  3 sub-types

  • MYH7-related skeletal myopathy 0 trials
  • Congenital myopathy 7A, myosin storage, autosomal dominant 0 trials
  • Hyaline body myopathy 0 trials
• Neuromuscular disease caused by qualitative or quantitative defects of perlecan 0 trials
  2 sub-types

  • Schwartz-Jampel syndrome 0 trials Sub-types →
  • Silverman-Handmaker type dyssegmental dysplasia 0 trials
• Neuromuscular disease caused by qualitative or quantitative defects of protein SERCA1 0 trials
  2 sub-types

  • Brody myopathy 0 trials
  • Myopathy due to calsequestrin and SERCA1 protein overload 0 trials