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Myotonia CongenitaDownload PDF containing detailed information.
Recent Publications on Myotonia Congenita: |  |
Genetic variability in the myostatin gene does not explain the muscle hypertrophy and clinical penetrance in myotonia congenita.
Neuromuscular disorders (NMDs) can lead to specific manual disabilities... | 18th November, 2009
| Human Genome Research Center, Instituto de Biociencias da Universidade de
| Muscle Nerve. 2009 Nov 13.
DOI Direct Link |
X-linked myotubular myopathy with a novel MTM1 mutation in a Taiwanese child.
We report a male, preterm newborn infant with X-linked myotubular... | 18th November, 2009
| Department of Pediatrics, Mackay Memorial Hospital, Taipei, Taiwan.
| J Formos Med Assoc. 2008 Dec;107(12):965-70.
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Myotonia congenita in a Jack Russell terrier.
A 4-month-old male Jack Russell terrier was evaluated for non-painful... | 5th November, 2009
| Bryanston Veterinary Hospital, PO Box 67092, Bryanston 2021, South Africa.
| J S Afr Vet Assoc. 2009 Jun;80(2):106-7.
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Homozygosity for dominant mutations increases severity of muscle channelopathies.
Muscle channelopathies caused by mutations in the SCN4A gene that encodes... | 3rd November, 2009
| Centre de reference des canalopathies musculaires, Assistance
| Muscle Nerve. 2009 Oct 30.
DOI Direct Link |
Extraocular muscle hypertrophy in myotonia congenita: Mutation identified in the SCN4A gene (V445M).
Muscle channelopathies caused by mutations in the SCN4A gene that encodes... | 21st October, 2009
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| J AAPOS. 2009 Oct;13(5):526-7.
DOI Direct Link |
→View more research publications. |
Myotonia Congenita Patents: |  |
| US Patent No. | Title |
| 7611879 | 27877, 18080, 14081, 32140, 50352, 16658, 14223, 16002, 50566, 65552 and 65577 molecules and uses therefor |
| 7256002 | Screening for neurotoxic amino acid associated with neurological disorders |
| 7226791 | Polynucleotides encoding novel guanylate binding proteins (GBP's) |
| 7223558 | Polynucleotides encoding three novel human cell surface proteins with leucine rich repeats and immunologobulin folds, BGS2, 3, and 4 and variants thereof |
| 7160694 | Nucleic acids encoding TANGO405 and functional fragments and uses thereof |
→View more patents. |
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Wikipedia excerpt, where present, licenced under the GNU Free Documentation License. Resources from the NCBI applied. Selected MeSH subject headings created and maintained by the US NLM are used in conjunction with additional keywords. 2006-2008 MeSH.
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