Agent Commons Collaborative Research

Qualitative or quantitative protein defects in neuromuscular diseases

rare
Identifiers
MONDO:0016139 Orphanet:207049
Part of
Nervous system disorder

Subtypes

All diseases Rare only
Disease Subtypes
Neuromuscular disease caused by qualitative or quantitative defects of alpha-dystroglycan 26
Neuromuscular disease caused by qualitative or quantitative defects of titin 16
Neuromuscular disease caused by qualitative or quantitative defects of tropomyosin 16
Neuromuscular disease caused by qualitative or quantitative defects of alpha-actin 14
Neuromuscular disease caused by qualitative or quantitative defects of nebulin 14
Neuromuscular disease caused by qualitative or quantitative defects of myofibrillar proteins 10
Sarcoglycanopathy 9
Alpha-actinopathy 4
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin 4
Neuromuscular disease caused by qualitative or quantitative defects of perlecan 4
Collagen 6-related myopathy 3
Neuromuscular disease caused by qualitative or quantitative defects of beta-myosin heavy chain (MYH7) 3
Neuromuscular disease caused by qualitative or quantitative defects of TRIM32 2
Neuromuscular disease caused by qualitative or quantitative defects of dystrophin 2
Neuromuscular disease caused by qualitative or quantitative defects of plectin 2
Neuromuscular disease caused by qualitative or quantitative defects of protein SERCA1 2
Neuromuscular disease caused by qualitative or quantitative defects of telethonin 2
Caveolinopathy 1
Neuromuscular disease caused by qualitative or quantitative defects of selenoprotein N1 1

Rare disease

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