present in Gene: NALCN
present in Chromosome: 13
Position on Chromosome: 101061967
Alleles of this Variant: C/A
rs1158141270 in
NALCN gene and
Muscle hypotonia
PMID 27214504 2016 Novel Mutations in the Nonselective Sodium Leak Channel (NALCN) Lead to Distal Arthrogryposis with Increased Muscle Tone.
PMID 27473021 2016 Muscle biopsy findings in a child with NALCN gene mutation.
PMID 23749988 2013 Recessive truncating NALCN mutation in infantile neuroaxonal dystrophy with facial dysmorphism.
PMID 24075186 2013 Mutations in NALCN cause an autosomal-recessive syndrome with severe hypotonia, speech impairment, and cognitive delay.
PMID 27633718 2016 A de novo mutation in the NALCN gene in an adult patient with cerebellar ataxia associated with intellectual disability and arthrogryposis.
PMID 26923739 2016 A novel homozygous splice site mutation in NALCN identified in siblings with cachexia, strabismus, severe intellectual disability, epilepsy and abnormal respiratory rhythm.
PMID 27558372 2016 NALCN channelopathies: Distinguishing gain-of-function and loss-of-function mutations.
PMID 25683120 2015 De novo mutations in NALCN cause a syndrome characterized by congenital contractures of the limbs and face, hypotonia, and developmental delay.
PMID 28133733 2017 Additional de novo missense genetic variants in NALCN associated with CLIFAHDD syndrome.