Homozygosity for Arg1142Gln causes congenital myopathy with variable disease expression

scientific article published on 19 September 2018

Homozygosity for Arg1142Gln causes congenital myopathy with variable disease expression is …
instance of (P31):
scholarly articleQ13442814

External links are
P356DOI10.1212/NXG.0000000000000267
P932PMC publication ID6167177
P698PubMed publication ID30283817

P50authorChristina FagerbergQ56839001
Bo Hjorth BentzenQ58423863
P2093author name stringNicole Schmitt
David Gaist
John Vissing
Federico Denti
Christine K Sloth
P2860cites workMyasthenic syndrome caused by mutation of the SCN4A sodium channelQ35163768
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
P433issue5
P407language of work or nameEnglishQ1860
P921main subjectcongenital myopathyQ112412
homozygosityQ114049690
P304page(s)e267
P577publication date2018-09-19
P1433published inNeurology. GeneticsQ27727179
P1476titleHomozygosity for SCN4A Arg1142Gln causes congenital myopathy with variable disease expression
P478volume4

Reverse relations

cites work (P2860)
Q90110243Muscle and brain sodium channelopathies: genetic causes, clinical phenotypes, and management approaches
Q90661783Novel mutations in SLC6A5 with benign course in hyperekplexia