| D007223 |
Infant |
A child between 1 and 23 months of age. |
Infants |
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| D009223 |
Myotonic Dystrophy |
Neuromuscular disorder characterized by PROGRESSIVE MUSCULAR ATROPHY; MYOTONIA, and various multisystem atrophies. Mild INTELLECTUAL DISABILITY may also occur. Abnormal TRINUCLEOTIDE REPEAT EXPANSION in the 3' UNTRANSLATED REGIONS of DMPK PROTEIN gene is associated with Myotonic Dystrophy 1. DNA REPEAT EXPANSION of zinc finger protein-9 gene intron is associated with Myotonic Dystrophy 2. |
Dystrophia Myotonica,Myotonic Dystrophy, Congenital,Myotonic Myopathy, Proximal,Steinert Disease,Congenital Myotonic Dystrophy,Dystrophia Myotonica 1,Dystrophia Myotonica 2,Myotonia Atrophica,Myotonia Dystrophica,Myotonic Dystrophy 1,Myotonic Dystrophy 2,PROMM (Proximal Myotonic Myopathy),Proximal Myotonic Myopathy,Ricker Syndrome,Steinert Myotonic Dystrophy,Steinert's Disease,Atrophica, Myotonia,Atrophicas, Myotonia,Congenital Myotonic Dystrophies,Disease, Steinert,Disease, Steinert's,Dystrophia Myotonica 2s,Dystrophia Myotonicas,Dystrophica, Myotonia,Dystrophicas, Myotonia,Dystrophies, Congenital Myotonic,Dystrophies, Myotonic,Dystrophy, Congenital Myotonic,Dystrophy, Myotonic,Dystrophy, Steinert Myotonic,Myopathies, Proximal Myotonic,Myopathy, Proximal Myotonic,Myotonia Atrophicas,Myotonia Dystrophicas,Myotonic Dystrophies,Myotonic Dystrophies, Congenital,Myotonic Dystrophy, Steinert,Myotonic Myopathies, Proximal,Myotonica, Dystrophia,Myotonicas, Dystrophia,PROMMs (Proximal Myotonic Myopathy),Proximal Myotonic Myopathies,Steinerts Disease,Syndrome, Ricker |
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| D003937 |
Diagnosis, Differential |
Determination of which one of two or more diseases or conditions a patient is suffering from by systematically comparing and contrasting results of diagnostic measures. |
Diagnoses, Differential,Differential Diagnoses,Differential Diagnosis |
|
| D006801 |
Humans |
Members of the species Homo sapiens. |
Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man |
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| D000199 |
Actins |
Filamentous proteins that are the main constituent of the thin filaments of muscle fibers. The filaments (known also as filamentous or F-actin) can be dissociated into their globular subunits; each subunit is composed of a single polypeptide 375 amino acids long. This is known as globular or G-actin. In conjunction with MYOSINS, actin is responsible for the contraction and relaxation of muscle. |
F-Actin,G-Actin,Actin,Isoactin,N-Actin,alpha-Actin,alpha-Isoactin,beta-Actin,gamma-Actin,F Actin,G Actin,N Actin,alpha Actin,alpha Isoactin,beta Actin,gamma Actin |
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| D014335 |
Tropomyosin |
A protein found in the thin filaments of muscle fibers. It inhibits contraction of the muscle unless its position is modified by TROPONIN. |
Paramyosin,Miniparamyosin,Paratropomyosin,Tropomyosin Mg,alpha-Tropomyosin,beta-Tropomyosin,gamma-Tropomyosin,Mg, Tropomyosin,alpha Tropomyosin,beta Tropomyosin,gamma Tropomyosin |
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| D017346 |
Protein Serine-Threonine Kinases |
A group of enzymes that catalyzes the phosphorylation of serine or threonine residues in proteins, with ATP or other nucleotides as phosphate donors. |
Protein-Serine-Threonine Kinases,Serine-Threonine Protein Kinase,Serine-Threonine Protein Kinases,Protein-Serine Kinase,Protein-Serine-Threonine Kinase,Protein-Threonine Kinase,Serine Kinase,Serine-Threonine Kinase,Serine-Threonine Kinases,Threonine Kinase,Kinase, Protein-Serine,Kinase, Protein-Serine-Threonine,Kinase, Protein-Threonine,Kinase, Serine-Threonine,Kinases, Protein Serine-Threonine,Kinases, Protein-Serine-Threonine,Kinases, Serine-Threonine,Protein Kinase, Serine-Threonine,Protein Kinases, Serine-Threonine,Protein Serine Kinase,Protein Serine Threonine Kinase,Protein Serine Threonine Kinases,Protein Threonine Kinase,Serine Threonine Kinase,Serine Threonine Kinases,Serine Threonine Protein Kinase,Serine Threonine Protein Kinases |
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| D018485 |
Muscle Fibers, Skeletal |
Large, multinucleate single cells, either cylindrical or prismatic in shape, that form the basic unit of SKELETAL MUSCLE. They consist of MYOFIBRILS enclosed within and attached to the SARCOLEMMA. They are derived from the fusion of skeletal myoblasts (MYOBLASTS, SKELETAL) into a syncytium, followed by differentiation. |
Myocytes, Skeletal,Myotubes,Skeletal Myocytes,Skeletal Muscle Fibers,Fiber, Skeletal Muscle,Fibers, Skeletal Muscle,Muscle Fiber, Skeletal,Myocyte, Skeletal,Myotube,Skeletal Muscle Fiber,Skeletal Myocyte |
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| D019680 |
Trinucleotide Repeat Expansion |
An increased number of contiguous trinucleotide repeats in the DNA sequence from one generation to the next. The presence of these regions is associated with diseases such as FRAGILE X SYNDROME and MYOTONIC DYSTROPHY. Some CHROMOSOME FRAGILE SITES are composed of sequences where trinucleotide repeat expansion occurs. |
Expanded Trinucleotide Repeat,Expanded Trinucleotide Repeats,Expansion, Trinucleotide Repeat,Expansions, Trinucleotide Repeat,Repeat Expansion, Trinucleotide,Repeat Expansions, Trinucleotide,Repeat, Expanded Trinucleotide,Repeats, Expanded Trinucleotide,Trinucleotide Repeat Expansions,Trinucleotide Repeat, Expanded,Trinucleotide Repeats, Expanded |
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| D020914 |
Myopathies, Structural, Congenital |
A heterogeneous group of diseases characterized by the early onset of hypotonia, developmental delay of motor skills, non-progressive weakness. Each of these disorders is associated with a specific histologic muscle fiber abnormality. |
Centronuclear Myopathy,Congenital Fiber Type Disproportion,Myopathy, Myotubular,Tubular Aggregate Myopathy,Autosomal Dominant Myotubular Myopathy,Autosomal Recessive Centronuclear Myopathy,CFTDM,Congenital Fiber-Type Disproportion,Congenital Myopathy with Fiber Type Disproportion,Congenital Non-Progressive Myopathies,Congenital Structural Myopathies,Fiber-Type Disproportion Myopathy, Congenital,Myopathy, Centronuclear, 1,Myopathy, Centronuclear, Autosomal Dominant,Myopathy, Congenital, With Fiber-Type Disproportion,Myopathy, Tubular Aggregate,Myotubular Myopathy,Myotubular Myopathy 1,Myotubular Myopathy, Autosomal Dominant,Myotubular Myopathy, X-Linked,Non-Progressive Myopathies, Congenital,Structural Myopathies, Congenital,X-Linked Centronuclear Myopathy,X-Linked Myotubular Myopathy,XLMTM,Aggregate Myopathies, Tubular,Aggregate Myopathy, Tubular,Centronuclear Myopathies,Centronuclear Myopathies, X-Linked,Centronuclear Myopathy, X-Linked,Congenital Fiber-Type Disproportions,Congenital Non Progressive Myopathies,Congenital Non-Progressive Myopathy,Congenital Structural Myopathy,Disproportion, Congenital Fiber-Type,Disproportions, Congenital Fiber-Type,Fiber Type Disproportion Myopathy, Congenital,Fiber-Type Disproportion, Congenital,Fiber-Type Disproportions, Congenital,Myopathies, Centronuclear,Myopathies, Congenital Non-Progressive,Myopathies, Congenital Structural,Myopathies, Myotubular,Myopathies, Tubular Aggregate,Myopathies, X-Linked Centronuclear,Myopathies, X-Linked Myotubular,Myopathy, Centronuclear,Myopathy, Congenital Non-Progressive,Myopathy, Congenital Structural,Myopathy, X-Linked Centronuclear,Myopathy, X-Linked Myotubular,Myotubular Myopathies,Myotubular Myopathies, X-Linked,Myotubular Myopathy, X Linked,Non Progressive Myopathies, Congenital,Non-Progressive Myopathy, Congenital,Structural Myopathy, Congenital,Tubular Aggregate Myopathies,X Linked Centronuclear Myopathy,X Linked Myotubular Myopathy,X-Linked Centronuclear Myopathies,X-Linked Myotubular Myopathies |
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