Neonatal hypotonia can be a sodium channelopathy: recognition of a new phenotype.
Matthews
E
E
MRC Centre for Neuromuscular Disease, Institute of Neurology, UCL, Queen Square, London, UK.
Guet
A
A
Mayer
M
M
Vicart
S
S
Pemble
S
S
Sternberg
D
D
Fontaine
B
B
Hanna
M G
MG
D004252:DNA Mutational Analysis; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D007532:Isoleucine / Q000235:genetics; D008297:Male; D009122:Muscle Hypertonia / Q000235:genetics* / Q000473:pathology / Q000503:physiopathology; D009124:Muscle Proteins / Q000235:genetics*; D020125:Mutation, Missense; D062553:NAV1.4 Voltage-Gated Sodium Channel; D010641:Phenotype; D015222:Sodium Channels / Q000235:genetics*; D013912:Threonine / Q000235:genetics
D009124:Muscle Proteins; D062553:NAV1.4 Voltage-Gated Sodium Channel; C106251:SCN4A protein, human; D015222:Sodium Channels; D007532:Isoleucine; D013912:Threonine