183497 Genetic neuromuscular disease
377794 group of disorders
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207049 Qualitative or quantitative protein defects in neuromuscular diseases
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207052 Qualitative or quantitative defects of sarcoglycan
4
207073 Qualitative or quantitative defects of dysferlin
207078 Qualitative or quantitative defects of caveolin-3
207085 Qualitative or quantitative defects of dystrophin
207090 Qualitative or quantitative defects of collagen 6
207094 Qualitative or quantitative defects of merosin
207098 Qualitative or quantitative defects of integrin alpha-7
207101 Qualitative or quantitative defects of perlecan
207104 Qualitative or quantitative defects of calpain
207107 Qualitative or quantitative defects of TRIM32
207110 Qualitative or quantitative defects of myotubularin
209038 Qualitative or quantitative defects of myofibrillar proteins
4
209053 Qualitative or quantitative defects of titin
209056 Qualitative or quantitative defects of telethonin
209059 Qualitative or quantitative defects of alpha-actin
209182 Qualitative or quantitative defects of nebulin
209185 Qualitative or quantitative defects of beta-myosin heavy chain (MYH7)
209188 Qualitative or quantitative defects of emerin
209193 Qualitative or quantitative defects of selenoprotein N1
209196 Qualitative or quantitative defects of plectin
209199 Qualitative or quantitative defects of protein SERCA1
209203 Qualitative or quantitative defects of glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase -
209224 Qualitative or quantitative defects of myotilin
284786 Qualitative or quantitative defects of troponin
284790 Qualitative or quantitative defects of tropomyosin
371024 Qualitative or quantitative defects of alpha-dystroglycan
2
424925 Qualitative or quantitative defects of Torsin-1A-interacting protein 1