PMID- 24082935
OWN - NLM
STAT- PubMed-not-MEDLINE
DCOM- 20131001
LR  - 20211021
IS  - 1817-1745 (Print)
IS  - 1998-3948 (Electronic)
IS  - 1817-1745 (Linking)
VI  - 8
IP  - 2
DP  - 2013 May
TI  - Phenotypic heterogeneity in skeletal muscle sodium channelopathies: A case report 
      and literature review.
PG  - 138-40
LID - 10.4103/1817-1745.117848 [doi]
AB  - Skeletal muscle sodium channelopathies (SMSCs) including hyperkalemic periodic 
      paralysis (HyperPP), paramyotonia congenita (PC), and sodium channel myotonia are 
      caused by sodium channel gene (SCN4A) mutations, with altered sarcolemal 
      excitability, and can present as episodes of skeletal muscle weakness, paralysis, 
      and myotonia. We report a teenage boy, who presented with features of HyperPP, 
      PC, myotonia congenita, and sodium channel myotonia. His electromyography (EMG) 
      revealed myopathic changes, myotonia, and Fournier EMG pattern I, and posed a 
      diagnostic challenge. Genetic analysis showed Thr704Met mutation in SCN4A gene. 
      While with typical clinical phenotypes, the electromyographic patterns can be 
      used to direct genetic testing, atypical phenotypes may pose diagnostic dilemmas. 
      Clinicians dealing with neuromuscular disorders in children need to be aware of 
      the unusual clinical presentations of SMSC, so that focused genetic testing can 
      be carried out.
FAU - Saleem, Rashid
AU  - Saleem R
AD  - Department of Paediatric Neurology, Leicester Royal Infirmary, University 
      Hospitals of Leicester NHS Trust, Leicester, UK.
FAU - Setty, Gururaj
AU  - Setty G
FAU - Khan, Arif
AU  - Khan A
FAU - Farrell, Duncan
AU  - Farrell D
FAU - Hussain, Nahin
AU  - Hussain N
LA  - eng
PT  - Case Reports
PL  - India
TA  - J Pediatr Neurosci
JT  - Journal of pediatric neurosciences
JID - 101273794
PMC - PMC3783724
OTO - NOTNLM
OT  - Allelic disorder
OT  - myotonia
OT  - periodic paralysis
OT  - phenotype-genotype protocols
OT  - sodium channelopathy
COIS- Conflict of Interest: None declared.
EDAT- 2013/10/02 06:00
MHDA- 2013/10/02 06:01
PMCR- 2013/05/01
CRDT- 2013/10/02 06:00
PHST- 2013/10/02 06:00 [entrez]
PHST- 2013/10/02 06:00 [pubmed]
PHST- 2013/10/02 06:01 [medline]
PHST- 2013/05/01 00:00 [pmc-release]
AID - JPN-8-138 [pii]
AID - 10.4103/1817-1745.117848 [doi]
PST - ppublish
SO  - J Pediatr Neurosci. 2013 May;8(2):138-40. doi: 10.4103/1817-1745.117848.