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Items: 1 to 20 of 37

1.

Myopathy

A disorder of muscle unrelated to impairment of innervation or neuromuscular junction. [from HPO]

MedGen UID:
505479
Concept ID:
CN002886
Finding
2.

Myopathy, centronuclear, 3

MedGen UID:
482333
Concept ID:
C3280703
Disease or Syndrome
3.

Myotubular myopathy

MedGen UID:
104495
Concept ID:
C0175709
Disease or Syndrome
4.

Severe X-linked myotubular myopathy

X-linked centronuclear myopathy (XLCNM) (also known as myotubular myopathy [MTM]) is characterized by muscle weakness that ranges from severe to mild. Severe (classic) XLCNM presents prenatally with polyhydramnios and decreased fetal movement and in newborns with weakness, hypotonia, and respiratory distress. Affected males have significantly delayed motor milestones and most fail to achieve independent ambulation. Weakness is profound and often involves facial and extraocular muscles. Respiratory failure is nearly uniform, with most affected individuals requiring 24-hour ventilatory assistance. A minority of males with severe XLCNM die in infancy. Males with moderate XLCNM achieve motor milestones more quickly than males with the severe form; about 40% require no ventilator support or intermittent support. Males with mild XLCNM may require ventilatory support only in the newborn period; they have minimally delayed motor milestones, are able to walk, and may lack myopathic facies. The muscle disease of XLCNM is not obviously progressive. Female carriers of XLCNM are generally asymptomatic, although rare manifesting heterozygotes have been described. [from GeneReviews]

MedGen UID:
98374
Concept ID:
C0410203
Congenital Abnormality
5.

Phosphate

Inorganic salts of phosphoric acid. [from MeSH]

MedGen UID:
18434
Concept ID:
C0031603
Inorganic Chemical; Pharmacologic Substance
6.

Myopathy

Your muscles help you move and help your body work. Different types of muscles have different jobs. There are many problems that can affect muscles. Muscle disorders can cause weakness, pain or even paralysis. . Causes of muscle disorders include. -Injury or overuse, such as sprains or strains, cramps or tendinitis . -A genetic disorder, such as muscular dystrophy. -Some cancers. -Inflammation, such as myositis. -Diseases of nerves that affect muscles. -Infections. -Certain medicines. Sometimes the cause is not known.  [from MedlinePlus]

MedGen UID:
10135
Concept ID:
C0026848
Disease or Syndrome
7.

Neonatal hypotonia

Muscular hypotonia (abnormally low muscle tone) manifesting in the neonatal period. [from HPO]

MedGen UID:
412209
Concept ID:
C2267233
Disease or Syndrome
8.

Muscle weakness

Reduced strength of muscles. [from HPO]

MedGen UID:
57735
Concept ID:
C0151786
Finding; Sign or Symptom
9.

Tyrosine

Amino acid with side chain -CH2-C6H4OH. [from NCI]

MedGen UID:
21746
Concept ID:
C0041485
Amino Acid, Peptide, or Protein; Biologically Active Substance; Pharmacologic Substance
10.

Charcot-Marie-Tooth disease

Charcot-Marie-Tooth (CMT) hereditary neuropathy refers to a group of disorders characterized by a chronic motor and sensory polyneuropathy. The affected individual typically has distal muscle weakness and atrophy often associated with mild to moderate sensory loss, depressed tendon reflexes, and high-arched feet. [from GeneReviews]

MedGen UID:
2980
Concept ID:
C0007959
Disease or Syndrome
11.

Charcot-Marie-Tooth, X-linked

MedGen UID:
893574
Concept ID:
CN239255
Disease or Syndrome
12.

Weakness

The property of lacking physical strength. [from NCI]

MedGen UID:
811372
Concept ID:
C3714552
Sign or Symptom
13.

Does not

MedGen UID:
721427
Concept ID:
C1299585
Finding
14.

Able

MedGen UID:
721424
Concept ID:
C1299581
Finding
15.

En(a-) phenotype

MedGen UID:
714462
Concept ID:
C1292209
Finding
16.

Weakness

The property of lacking physical or mental strength; liability to failure under pressure or stress or strain. (WordNet) [from NCI]

MedGen UID:
362950
Concept ID:
C1883552
Sign or Symptom
17.

Generalized hypotonia

Generalized muscular hypotonia (abnormally low muscle tone). [from HPO]

MedGen UID:
346841
Concept ID:
C1858120
Finding
18.

Generalized neonatal hypotonia

Muscular hypotonia (abnormally low muscle tone) manifesting in the neonatal period and affecting the entire musculature. [from HPO]

MedGen UID:
336857
Concept ID:
C1845123
Finding
19.

Severe muscular hypotonia

A severe degree of muscular hypotonia characterized by markedly reduced muscle tone. [from HPO]

MedGen UID:
326544
Concept ID:
C1839630
Finding
20.

Vacuolar Protein Sorting

The process of directing proteins towards the vacuole, usually using signals contained within the protein. [GOC:curators] [from GO]

MedGen UID:
275569
Concept ID:
C1519906
Molecular Function
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