| Rank (Similarity) |
PMID (PMCID) |
|
|---|---|---|
| 1 (36.8%) |
11002727 |
[Congenital nemaline myopathy with mitochondrial abnormalities. An adult case report]. Oya Y, Segawa M, Ogawa M, Goto Y, Nonaka I, Kawai M. Rinsho Shinkeigaku. 2000;40(5):452-8. |
| Narrow palate Generalized muscle weakness | ||
| Adult Cytochrome-c Oxidase Deficiency DNA, Mitochondrial Gene Deletion Homo sapiens Male Mitochondria, Muscle Mitochondrial Myopathies Myopathies, Nemaline | ||
| 2 (22.8%) |
19526838 |
[Adult-onset nemaline myopathy with distal muscle atrophy--case report]. Niwa F, Shiga K, Kimura M, Yamaguchi T, Kondo M, Nakagawa M. Brain Nerve. 2009;61(6):695-9. |
| Pes cavus | ||
| Adult Differential Diagnosis Homo sapiens Male Myopathies, Nemaline | ||
| 3 (17.5%) |
26825889 (5291559) |
Adult-onset Nemaline Myopathy Coexisting With Myasthenia Gravis: A Case Report. Cao L, Wang Y, Liu X, Hu Y, Li N, Qiu G, Luo Y, Li W. Medicine (Baltimore). 2016;95(4):e2527. |
| Muscle weakness | ||
| TTN | ||
| Homo sapiens Male Middle Aged Muscle Weakness Myasthenia Gravis Myopathies, Nemaline | ||
| 3 (17.5%) |
23620652 (3631801) |
On a case of respiratory failure due to diaphragmatic paralysis and dilated cardiomyopathy in a patient with nemaline myopathy. Taglia A, D'Ambrosio P, Palladino A, Politano L. Acta Myol. 2012;31(3):201-3. |
| Respiratory failure Diaphragmatic paralysis | ||
| Age of Onset Cardiomyopathy, Dilated Homo sapiens Male Middle Aged Myopathies, Nemaline Respiratory Insufficiency Respiratory Paralysis | ||
| 3 (17.5%) |
19229965 |
Adult nemaline myopathy with trabecular muscle fibers. Irodenko VS, Lee HS, de Armond SJ, Layzer RB. Muscle Nerve. 2009;39(6):871-5. |
| Myopathy | ||
| Biopsy Disease Progression Homo sapiens Immunosuppressive Agents Inclusion Bodies Male Middle Aged Muscle Weakness Myopathies, Nemaline Paraproteinemias Skeletal Myocytes | ||
| 3 (17.5%) |
16401746 |
Adult-onset nemaline myopathy and monoclonal gammopathy. Keller CE, Hays AP, Rowland LP, Moghadaszadeh B, Beggs AH, Bhagat G. Arch Neurol. 2006;63(1):132-4. |
| Proximal muscle weakness | ||
| Bone Marrow Homo sapiens Male Middle Aged Myopathies, Nemaline Paraproteinemias Transmission Electron Microscopy | ||
| 3 (17.5%) |
9372751 |
Adult-onset nemaline myopathy: a case report and review of the literature. Gyure KA, Prayson RA, Estes ML. Arch Pathol Lab Med. 1997;121(11):1210-3. |
| Proximal muscle weakness | ||
| Age Factors Electron Microscopy Homo sapiens Inflammation Male Myopathies, Nemaline | ||
| 3 (17.5%) |
7834955 |
[A patient of late-onset nemaline myopathy with mononuclear cell infiltration]. Miura H, Kannari K, Kashiwamura H, Nonaka I. Rinsho Shinkeigaku. 1994;34(10):1061-3. |
| Nemaline bodies | ||
| Females Homo sapiens Middle Aged Muscle Tissue Myopathies, Nemaline | ||
| 3 (17.5%) |
2173650 |
[Clinical and pathological studies on two patients with adult-onset nemaline myopathy]. Maruyama T, Hanyu N, Maruyama K, Takeda S, Yanagisawa N, Nonaka I. Rinsho Shinkeigaku. 1990;30(7):738-44. |
| Muscle weakness | ||
| Adult Electron Microscopy Females Homo sapiens Inclusion Bodies Male Middle Aged Muscle Tissue Myopathy X-Ray Computed Tomography | ||
| 10 (4.0%) |
22647214 |
Adult-onset nemaline myopathy in a dog presenting with persistent atrial standstill and primary hypothyroidism. Nakamura RK, Russell NJ, Shelton GD. J Small Anim Pract. 2012;53(6):357-60. |
| Hypothyroidism | ||
| Animals Canis familiaris Dog Diseases Electromyography Females Hypothyroidism Inclusion Bodies Myocarditis Myopathies, Nemaline Skeletal Myocytes |
Total: 29
| HPO ID | Term | Frequency |
|---|---|---|
| HP:0003198 | Myopathy | Very frequent (99-80%) |
| HP:0003458 | EMG: myopathic abnormalities | Very frequent (99-80%) |
| HP:0003798 | Nemaline bodies | Very frequent (99-80%) |
| HP:0002067 | Bradykinesia | Frequent (79-30%) |
| HP:0003326 | Myalgia | Frequent (79-30%) |
| HP:0003484 | Upper limb muscle weakness | Frequent (79-30%) |
| HP:0003557 | Increased variability in muscle fiber diameter | Frequent (79-30%) |
| HP:0003722 | Neck flexor weakness | Frequent (79-30%) |
| HP:0003803 | Type 1 muscle fiber predominance | Frequent (79-30%) |
| HP:0009058 | Increased muscle lipid content | Frequent (79-30%) |
| HP:0031047 | Paraproteinemia | Frequent (79-30%) |
| HP:0000218 | High palate | Occasional (29-5%) |
| HP:0000275 | Narrow face | Occasional (29-5%) |
| HP:0000276 | Long face | Occasional (29-5%) |
| HP:0000347 | Micrognathia | Occasional (29-5%) |
| HP:0001265 | Hyporeflexia | Occasional (29-5%) |
| HP:0001371 | Flexion contracture | Occasional (29-5%) |
| HP:0001644 | Dilated cardiomyopathy | Occasional (29-5%) |
| HP:0002068 | Neuromuscular dysphagia | Occasional (29-5%) |
| HP:0002355 | Difficulty walking | Occasional (29-5%) |
| HP:0002483 | Bulbar signs | Occasional (29-5%) |
| HP:0002747 | Respiratory insufficiency due to muscle weakness | Occasional (29-5%) |
| HP:0002792 | Reduced vital capacity | Occasional (29-5%) |
| HP:0003552 | Muscle stiffness | Occasional (29-5%) |
| HP:0007340 | Lower limb muscle weakness | Occasional (29-5%) |
| HP:0010546 | Muscle fibrillation | Occasional (29-5%) |
| HP:0011968 | Feeding difficulties | Occasional (29-5%) |
| HP:0008180 | Mildly elevated creatine kinase | Very rare (4-1%) |
| HP:0007010 | Poor fine motor coordination | Excluded (0%) |
Total: 6
| HPO ID | Term | # of case reports |
|---|---|---|
| HP:0002878 | Respiratory failure | 4 |
| HP:0000832 | Primary hypothyroidism | 1 |
| HP:0002093 | Respiratory insufficiency | 1 |
| HP:0003701 | Proximal muscle weakness | 1 |
| HP:0003798 | Nemaline bodies | 1 |
| HP:0009071 | Inflammatory myopathy | 1 |
Total: 0
| Gene Symbol | Gene Name | Entrez Gene ID |
|---|