Summary

MedlinePlus is an online health information resource. It is a service of the National Library of Medicine (NLM), the world's largest medical library, which is part of the National Institutes of Health (NIH). To promote the transmission of knowledge, this entry collection contains information about the effects of genetic variation on human health transferred from MedlinePlus.

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Topic Review
LPAR6 Gene
Lysophosphatidic acid receptor 6
  • 291
  • 23 Dec 2020
Topic Review
Lafora Progressive Myoclonus Epilepsy
Lafora progressive myoclonus epilepsy is a brain disorder characterized by recurrent seizures (epilepsy) and a decline in intellectual function. The signs and symptoms of the disorder usually appear in late childhood or adolescence and worsen with time.
  • 295
  • 23 Dec 2020
Topic Review
Myofibrillar Myopathy
Myofibrillar myopathy is part of a group of disorders called muscular dystrophies that affect muscle function and cause weakness. Myofibrillar myopathy primarily affects skeletal muscles, which are muscles that the body uses for movement. In some cases, the heart (cardiac) muscle is also affected.
  • 502
  • 23 Dec 2020
Topic Review
LMNB1 Gene
Lamin B1
  • 356
  • 23 Dec 2020
Topic Review
CYP27A1 Gene
Cytochrome P450 Family 27 Subfamily A Member 1
  • 327
  • 23 Dec 2020
Topic Review
LMNA Gene
Lamin A/C
  • 450
  • 23 Dec 2020
Topic Review
Myoclonus-Dystonia
Myoclonus-dystonia is a movement disorder that typically affects the neck, torso, and arms. Individuals with this condition experience quick, involuntary muscle jerks or twitches (myoclonus). About half of individuals with myoclonus-dystonia develop dystonia, which is involuntary tensing of various muscles that causes unusual positioning. In myoclonus-dystonia, dystonia often affects one or both hands, causing writer's cramp, or the neck, causing the head to turn (torticollis).
  • 344
  • 23 Dec 2020
Topic Review
CYP24A1 Gene
Cytochrome P450 Family 24 Subfamily A Member 1
  • 426
  • 23 Dec 2020
Topic Review
Myoclonic Epilepsy with Ragged-Red Fibers
Myoclonic epilepsy with ragged-red fibers (MERRF) is a disorder that affects many parts of the body, particularly the muscles and nervous system. In most cases, the signs and symptoms of this disorder appear during childhood or adolescence. The features of MERRF vary widely among affected individuals, even among members of the same family.
  • 373
  • 23 Dec 2020
Topic Review
KBG Syndrome
KBG syndrome is a rare disorder that affects several body systems. "KBG" represents the surname initials of the first families diagnosed with the disorder.
  • 442
  • 23 Dec 2020
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