Description:
NEMALINE MYOPATHY 2, AUTOSOMAL RECESSIVE; NEM2
NEBULIN; NEB
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Heritable Diseases
Muscular Dystrophies
CMD Specific
PIGI Consented Sample |
| Class |
Congenital Muscle Diseases |
| Quantity |
25 µg |
| Quantitation Method |
Please see our FAQ |
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Biopsy Source
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Peripheral vein
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Cell Type
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B-Lymphocyte
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Tissue Type
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Blood
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Transformant
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Epstein-Barr Virus
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Sample Source
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DNA from LCL
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Race
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More than one race
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Ethnicity
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Black/African American, White/Caucasian
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Country of Origin
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USA
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|
Family History
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N
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Relation to Proband
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proband
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Confirmation
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Clinical summary/Case history
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Species
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Homo sapiens
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Common Name
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Human
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|
Remarks
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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 |
| 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). |
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