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A case report of recessive myotonia congenita and early onset cognitive impairment: Is it a causal or casual link?

Abstract Myotonia congenita (MC) is a non-dystrophic myotonia inherited either in dominant (Thomsen) or recessive (Becker) form. MC is due to an abnormal functioning of skeletal muscle voltage-gated chloride channel (CLCN1), but the genotype/phenotype correlation remains unclear.
PMID
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Authors

Mayor MeshTerms
Keywords
Journal Title medicine
Publication Year Start




PMID- 29851785
OWN - NLM
STAT- MEDLINE
DCOM- 20180608
LR  - 20180608
IS  - 1536-5964 (Electronic)
IS  - 0025-7974 (Linking)
VI  - 97
IP  - 22
DP  - 2018 Jun
TI  - A case report of recessive myotonia congenita and early onset cognitive
      impairment: Is it a causal or casual link?
PG  - e10785
LID - 10.1097/MD.0000000000010785 [doi]
AB  - RATIONALE: Myotonia congenita (MC) is a non-dystrophic myotonia inherited either 
      in dominant (Thomsen) or recessive (Becker) form. MC is due to an abnormal
      functioning of skeletal muscle voltage-gated chloride channel (CLCN1), but the
      genotype/phenotype correlation remains unclear. PATIENT CONCERNS: A 48-year-old
      man, from consanguineous parents, presented with a fixed muscle weakness, muscle 
      atrophy, and a cognitive impairment. Notably, his brother presented the same
      mutation but with a different phenotype, mainly involving cognitive function.
      INTERVENTIONS: The patient was submitted to cognitive assessment, needle
      electromyography, brain and muscle MRI, and genetic analysis. OUTCOMES: The Milan
      Overall Dementia Assessment showed short-term memory, verbal fluency and verbal
      intelligence impairment. His genetic analysis showed a recessive splice-site
      mutation in the CLCN1 gene (IVS19+2T>A). Muscle MRI revealed a symmetric and
      bilateral fat infiltration of the tensor of fascia lata, gluteus medius, and
      gluteus maximus muscles, associated to mild atrophy. DIAGNOSIS: Recessive
      myotonia congenita was diagnosed. LESSONS: Further studies should establish if
      and to which extent the CLCN1 mutation is responsible for this c MC phenotype,
      taking into account a gene-gene and /or a gene-environment.
FAU - Portaro, Simona
AU  - Portaro S
AD  - IRCCS Centro Neurolesi "Bonino-Pulejo," Messina.
FAU - Cacciola, Alberto
AU  - Cacciola A
FAU - Naro, Antonino
AU  - Naro A
FAU - Milardi, Demetrio
AU  - Milardi D
FAU - Morabito, Rosa
AU  - Morabito R
FAU - Corallo, Francesco
AU  - Corallo F
FAU - Marino, Silvia
AU  - Marino S
FAU - Bramanti, Alessia
AU  - Bramanti A
FAU - Mazzon, Emanuela
AU  - Mazzon E
FAU - Calabro, Rocco Salvatore
AU  - Calabro RS
LA  - eng
PT  - Case Reports
PT  - Journal Article
PL  - United States
TA  - Medicine (Baltimore)
JT  - Medicine
JID - 2985248R
RN  - 0 (CLC-1 channel)
RN  - 0 (Chloride Channels)
SB  - AIM
SB  - IM
MH  - Brain/diagnostic imaging
MH  - Chloride Channels/genetics/physiology
MH  - Cognitive Dysfunction/*diagnosis/etiology
MH  - Electromyography/methods
MH  - Genetic Testing/methods
MH  - Humans
MH  - Magnetic Resonance Imaging/methods
MH  - Male
MH  - Middle Aged
MH  - Muscle Weakness/diagnosis
MH  - Muscle, Skeletal/diagnostic imaging/pathology/*physiopathology
MH  - Muscular Atrophy/diagnosis
MH  - Mutation
MH  - Myotonia Congenita/complications/diagnosis/*genetics
MH  - Phenotype
EDAT- 2018/06/01 06:00
MHDA- 2018/06/09 06:00
CRDT- 2018/06/01 06:00
PHST- 2018/06/01 06:00 [entrez]
PHST- 2018/06/01 06:00 [pubmed]
PHST- 2018/06/09 06:00 [medline]
AID - 10.1097/MD.0000000000010785 [doi]
AID - 00005792-201806010-00013 [pii]
PST - ppublish
SO  - Medicine (Baltimore). 2018 Jun;97(22):e10785. doi: 10.1097/MD.0000000000010785.