Individual #00052360

ID_report -
Reference PubMed: Ferreiro 2009, Journal: Ferreiro 2009
Remarks grand son
Gender M
Consanguinity no
Country Argentina
Population -
Age/Death >5y (later than 5 years)
VIP 0
Data_av -
Treatment -
Panel ID 00052359
Panel size 1
Diseases -
Owner name Johan den Dunnen


Phenotypes

dystrophy, muscular, Becker type (BMD) (BMD)   Add phenotype for this disease

AscendingPhenotype ID     

Phenotype details     

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Owner     
0000092778 large calves, able to walk-16m, run, go up/down steps with no difficulty; mild muscular symptoms; EMG-short-primary myopathy (duration and low-amplitude motor unit potentials); biopsy myopathic changes (slight atrophy type 1/2 fibers, diameter variations, perimysial/endomysial fibrosis; IHC-limited number isolated attenuated fibers; no scoliosis (-HP:0002650); no contractures (-HP:0001371); CK level 20145 IU/L; no cardiomyopathy (-HP:0001638); no restrictive lung disease (-HP:0002091) dystrophy, muscular, Becker type (BMD) dystrophy, muscular, Becker type (BMD) Familial, X-linked recessive - 05y frequent muscle cramps IHC DMD present (Dys-1/2/3) Johan den Dunnen



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000052308 DNA PCR;PCRm;MLPA - - DMD 1 Johan den Dunnen



Variants

1 entry on 1 page. Showing entry 1.
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Chr     

Allele     

Effect     

AscendingDNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

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Exon     

DNA change (cDNA)     

Haplotype     

ClassClinical     

RNA change     

Protein     

P-domain     

Exon_old     

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Predicted     

Type/DNA     

Conservation     

CpG     

Enzyme activity     

mRNA level     

Predict/CADD     

Predict/Splice     

Protein level     
X Maternal (confirmed) +/. g.(31525571_31645789)_(31986632_32235032)del g.(31507454_31627672)_(31968515_32216915)del del ex44-55 - DMD_054555 - PubMed: Ferreiro 2009, Journal: Ferreiro 2009 - - Germline yes - - 0 - Johan den Dunnen DMD - - - - - 44i_55i NM_004006.2:c.(6438+1_6439-1)_(8217+1_8218-1)del - pathogenic (recessive) r.(del) p.(del) - - - - - - - - - - - - - - - - - - -
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