Disease phenotype | Item in this table | Key references | Gene symbol (chromosome)
protein | All allelic disease phenotypes - locus/disease symbols |
| Nemaline myopathy - (AD) | 3.1 | | |  | * Nemaline myopathy 1, autosomal dominant - NEM1 |
|
| Nemaline myopathy - (AR) | 3.2 | | | | * Nemaline myopathy 2, autosomal recessive - NEM2 |
|
| Nemaline myopathy - (AD) | 3.3 | | | alpha actin, skeletal muscle
|
|
| | * myopathy, congenital, with fiber-type disproportion - CFTD | | * Nemaline myopathy 3 - NEM3 |
|
| Nemaline myopathy - (AD) | 3.4 | | | | * Arthrogryposis, distal, type 1A - DA1A | | * arthrogryposis, distal, type 2B - DA2B | | * Cap myopathy, TPM2-related, included | | * Nemaline myopathy 4 - NEM4 |
|
| Nemaline myopathy with Escobar syndrome - (AR) | 3.5 | | | | * Arthrogryposis, distal, type 1A - DA1A | | * arthrogryposis, distal, type 2B - DA2B | | * Cap myopathy, TPM2-related, included | | * Nemaline myopathy 4 - NEM4 |
|
| Nemaline myopathy - (AR) | 3.6 | | | | * Nemaline myopathy 5 - NEM5 |
|
| Nemaline myopathy - (AD) | 3.7 | | | kelch repeat and BTB (POZ) domain containing 13
|
|
| | * Nemaline myopathy 6 - NEM6 |
|
| Nemaline myopathy - (AR) | 3.8 | | | | * Nemaline myopathy - NEM7 |
|
| Myopathy, congenital, with fiber-type disproportion - (AD) | 3.9 | | | alpha actin, skeletal muscle
|
|
| | * myopathy, congenital, with fiber-type disproportion - CFTD | | * Nemaline myopathy 3 - NEM3 |
|
| Myopathy, congenital, with fiber-type disproportion - (AR) | 3.10 | | | | * Desmin-related myopathy with Mallory bodies - RSMD1 | | * Multiminicore disease, classical form | | * Muscular dystrophy, rigid spine, 1 - MDRS1 | | * myopathy, congenital, with fiber-type disproportion - CFTD | | * Rigid spine syndrome - RSS |
|
| Myopathy congenital, with fiber-type disproportion - (AR) | 3.11 | | | | * Nemaline myopathy 1, autosomal dominant - NEM1 |
|
| Myopathy, congenital, with fiber-type disproportion - (AR) | 3.12 | | | ryanodine receptor 1 (skeletal)
|
|
| | * Central core disease - CCD | | * centronuclear myopathy, recessive | | * Malignant hyperthermia susceptibility 1 - MHS1 | | * minicore myopathy with external ophthalmoplegia | | * myopathy, congenital, with fiber-type disproportion - CFTD |
|
| Myopathy, congenital, with fiber-type disproportion - (AD) | 3.13 | | | myosin, heavy polypeptide 7, cardiac muscle, beta
|
|
| | * Cardiomyopathy, dilated, 1S - CMD1S | | * cardiomyopathy, familial hypertrophic, 1, included - CMH1 | | * myopathy, congenital, with fiber-type disproportion - CFTD | | * Myopathy, distal 1 - MPD1 | | * Myosin storage myopathy |
|
| Myotubular myopathy - (XR) | 3.14 | | | | * Myotubular myopathy, X-linked - MTM1 |
|
| Centronuclear myopathy, dominant - (AD) | 3.15 | | | | * centronuclear myopathy, dominant - CNM |
|
| Centronuclear myopathy, recessive - (AR) | 3.16 | | | | * centronuclear myopathy, recessive |
|
| Centronuclear myopathy, recessive - (AR) | 3.17 | | | ryanodine receptor 1 (skeletal)
|
|
| | * Central core disease - CCD | | * centronuclear myopathy, recessive | | * Malignant hyperthermia susceptibility 1 - MHS1 | | * minicore myopathy with external ophthalmoplegia | | * myopathy, congenital, with fiber-type disproportion - CFTD |
|
| Central core disease, dominant - (AD) | 3.18 | | | ryanodine receptor 1 (skeletal)
|
|
| | * Central core disease - CCD | | * centronuclear myopathy, recessive | | * Malignant hyperthermia susceptibility 1 - MHS1 | | * minicore myopathy with external ophthalmoplegia | | * myopathy, congenital, with fiber-type disproportion - CFTD |
|
| Central core disease, recessive (transient multiminicore myopathy) - (AR) | 3.19 | | | ryanodine receptor 1 (skeletal)
|
|
| | * Central core disease - CCD | | * centronuclear myopathy, recessive | | * Malignant hyperthermia susceptibility 1 - MHS1 | | * minicore myopathy with external ophthalmoplegia | | * myopathy, congenital, with fiber-type disproportion - CFTD |
|
| Multiminicore disease with external ophtalmopegia - (AR) | 3.20 | | | ryanodine receptor 1 (skeletal)
|
|
| | * Central core disease - CCD | | * centronuclear myopathy, recessive | | * Malignant hyperthermia susceptibility 1 - MHS1 | | * minicore myopathy with external ophthalmoplegia | | * myopathy, congenital, with fiber-type disproportion - CFTD |
|
| Multiminicore disease, classical form - (AR) | 3.21 | | | | * Desmin-related myopathy with Mallory bodies - RSMD1 | | * Multiminicore disease, classical form | | * Muscular dystrophy, rigid spine, 1 - MDRS1 | | * myopathy, congenital, with fiber-type disproportion - CFTD | | * Rigid spine syndrome - RSS |
|
| Hyaline body myopathy - (AR) | 3.22 | | | | * Hyalin body myopathy - HBM |
|
| Hyaline body myopathy,dominant (myosin storage myopathy) - (AD) | 3.23 | | | myosin, heavy polypeptide 7, cardiac muscle, beta
|
|
| | * Cardiomyopathy, dilated, 1S - CMD1S | | * cardiomyopathy, familial hypertrophic, 1, included - CMH1 | | * myopathy, congenital, with fiber-type disproportion - CFTD | | * Myopathy, distal 1 - MPD1 | | * Myosin storage myopathy |
|
| Myosin storage myopathy and cardiomyopathy, recessive - (AR) | 3.24 | | | myosin, heavy polypeptide 7, cardiac muscle, beta
|
|
| | * Cardiomyopathy, dilated, 1S - CMD1S | | * cardiomyopathy, familial hypertrophic, 1, included - CMH1 | | * myopathy, congenital, with fiber-type disproportion - CFTD | | * Myopathy, distal 1 - MPD1 | | * Myosin storage myopathy |
|
| Myosin lia myopathy, dominant (inclusion body myopathy) - (AD) | 3.25 | | | myosin, heavy polypeptide 2, skeletal muscle
|
|
| | * Myopathy with joint contractures, ophtalmoplegia, and rimmed vacuoles - IBM3 |
|
| Myosin lia myopathy, recessive - (AR) | 3.26 | | | myosin, heavy polypeptide 2, skeletal muscle
|
|
| | * Myopathy with joint contractures, ophtalmoplegia, and rimmed vacuoles - IBM3 |
|
| Cap myopathy - (AD) | 3.27 | | | | * Arthrogryposis, distal, type 1A - DA1A | | * arthrogryposis, distal, type 2B - DA2B | | * Cap myopathy, TPM2-related, included | | * Nemaline myopathy 4 - NEM4 |
|
| Cap myopathy - (AD) | 3.28 | | | | * Nemaline myopathy 1, autosomal dominant - NEM1 |
|
| Cap myopathy - (AD) | 3.29 | | | alpha actin, skeletal muscle
|
|
| | * myopathy, congenital, with fiber-type disproportion - CFTD | | * Nemaline myopathy 3 - NEM3 |
|
| Congenital neuromuscular disease with uniform type 1 fiber - (-) | 3.30 | - | | ryanodine receptor 1 (skeletal)
|
|
| | * Central core disease - CCD | | * centronuclear myopathy, recessive | | * Malignant hyperthermia susceptibility 1 - MHS1 | | * minicore myopathy with external ophthalmoplegia | | * myopathy, congenital, with fiber-type disproportion - CFTD |
|
| Congenital myopathy with fatal cardiomyopathy - (-) | 3.31 | | | | * Autosomal dominant myopathy with proximal muscle weakness and early respiratory | | * Cardiomyopathy, dilated, 1G - CMD1G | | * Cardiomyopathy, familial hypertrophic, 9 - CMH9 | | * Congenital myopathy with fatal cardiomyopathy | | * Hereditry myopathy with early respiratory failure - HMERF | | * Limb girdle muscular dystrophy 2J (autosomal recessive) - LGMD2J | | * Tibial muscular dystrophy, tardive - TMD |
|
| Congenital skeletal myopathy and fatal cardiomyopathy - (AR) | 3.32 | | | cardiac myosin binding protein-C
|
|
| | * Cardimyopathy, dilated, 1A - CMD1A | | * Cardiomyopathy, familial hypertrophic, 4 - CMH4 | | * congenital skeletal myopathy and fatal cardiomyopathy | | * Dilated cardiomyopathy with MYBPC3 defect |
|
| Congenital lethal myopathy - (AR) | 3.33 | | | | * congenital lethal myopathy |
|
| Sarcotubular myopathy - (AR) | 3.34 | | | Tripartite motif-containing 32
|
|
| | * Muscular dystrophy, limb-girdle, type 2H - LGMD2H | | * Sarcotubular myopathy |
|
