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NA25173 DNA from LCL

Description:

NEMALINE MYOPATHY 2, AUTOSOMAL RECESSIVE; NEM2
NEBULIN; NEB

Affected:

Yes

Sex:

Male

Age:

11 YR (At Sampling)

  • Overview
  • Characterizations
  • Phenotypic Data
  • External Links

Overview

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Repository NIGMS Human Genetic Cell Repository
Subcollection Heritable Diseases
Muscular Dystrophies
CMD Specific
PIGI Consented Sample
Class Congenital Muscle Diseases
Quantity 25 µg
Quantitation Method Please see our FAQ
Biopsy Source Peripheral vein
Cell Type B-Lymphocyte
Tissue Type Blood
Transformant Epstein-Barr Virus
Sample Source DNA from LCL
Race More than one race
Ethnicity Black/African American, White/Caucasian
Country of Origin USA
Family History N
Relation to Proband proband
Confirmation Clinical summary/Case history
Species Homo sapiens
Common Name Human
Remarks Clinically affected; onset of symptoms at 2 years of age; motor functions achieved and maintained: head held up without assistance, turned in bed without assistance, sat without assistance, stood without assistance, walked indoors and outdoors without assistance, climbed 4 stairs with a handrail; sequencing of the NEB gene revealed that subject is heterozygous for two pathogenic mutations: c.3255+1G>A near exon 32 and c.24654_24655delAG in exon 175, predicted to result in a frameshift and premature protein termination (p.Arg8218Serfs*9).

Characterizations

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IDENTIFICATION OF SPECIES OF ORIGIN Species of Origin Confirmed by LINE assay
 
Gene NEB
Chromosomal Location 2q23.3
Allelic Variant 1 ; NEMALINE MYOPATHY 2 (NEM2)
Identified Mutation c.3255+1G>A
 
Gene NEB
Chromosomal Location 2q23.3
Allelic Variant 1 p.Arg8218Serfs*9; NEMALINE MYOPATHY 2 (NEM2)
Identified Mutation c.24654_24655delAG

Phenotypic Data

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Remarks Clinically affected; onset of symptoms at 2 years of age; motor functions achieved and maintained: head held up without assistance, turned in bed without assistance, sat without assistance, stood without assistance, walked indoors and outdoors without assistance, climbed 4 stairs with a handrail; sequencing of the NEB gene revealed that subject is heterozygous for two pathogenic mutations: c.3255+1G>A near exon 32 and c.24654_24655delAG in exon 175, predicted to result in a frameshift and premature protein termination (p.Arg8218Serfs*9).

External Links

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Gene Cards NEB
Gene Ontology GO:0003779 actin binding
GO:0007525 somatic muscle development
GO:0008307 structural constituent of muscle
GO:0015629 actin cytoskeleton
GO:0030017 sarcomere
GO:0030832 regulation of actin filament length
NCBI Gene Gene ID:4703
NCBI GTR 161650 NEBULIN; NEB
256030 NEMALINE MYOPATHY 2; NEM2
OMIM 161650 NEBULIN; NEB
256030 NEMALINE MYOPATHY 2; NEM2
Omim Description NEMALINE MYOPATHY 2, AUTOSOMAL RECESSIVE; NEM2
Pricing
International/Commercial/For-profit:
$281.00USD
U.S. Academic/Non-profit/Government:
$139.00USD
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Same Subject
  • GM25173 - B-Lymphocyte
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