scholarly article | Q13442814 |
P50 | author | Christina Fagerberg | Q56839001 |
Bo Hjorth Bentzen | Q58423863 | ||
P2093 | author name string | Nicole Schmitt | |
David Gaist | |||
John Vissing | |||
Federico Denti | |||
Christine K Sloth | |||
P2860 | cites work | Myasthenic syndrome caused by mutation of the SCN4A sodium channel | Q35163768 |
Defective fast inactivation recovery of Nav 1.4 in congenital myasthenic syndrome. | Q35878466 | ||
Loss-of-function mutations in SCN4A cause severe foetal hypokinesia or 'classical' congenital myopathy. | Q36615476 | ||
Becker's myotonia: novel mutations and clinical variability in patients born to consanguineous parents. | Q52685572 | ||
Congenital myopathy with "corona" fibres, selective muscle atrophy, and craniosynostosis associated with novel recessive mutations in SCN4A. | Q52708162 | ||
Dysfunction of NaV1.4, a skeletal muscle voltage-gated sodium channel, in sudden infant death syndrome: a case-control study. | Q55176457 | ||
P433 | issue | 5 | |
P407 | language of work or name | English | Q1860 |
P921 | main subject | congenital myopathy | Q112412 |
homozygosity | Q114049690 | ||
P304 | page(s) | e267 | |
P577 | publication date | 2018-09-19 | |
P1433 | published in | Neurology. Genetics | Q27727179 |
P1476 | title | Homozygosity for SCN4A Arg1142Gln causes congenital myopathy with variable disease expression | |
P478 | volume | 4 |