RMMCONNK5GKQM35Q5BD7EVVY4B77ZCBQYD3W7CR734D7EO6EZAPAC 237WYKEVIAPAFKBQU7AJM5NOLDSOKSQCIREWSEJGYIABUUVTNTBAC 4WANSPCMKEHH24UJHCUV6JQJOGOIZTMQ3NBMJIJF4E3K6QEYG2CAC RHWQQAAHNHFO3FLCGVB3SIDKNOUFJGZTDNN57IQVBMXXCWX74MKAC 5DKQ37JFTSHBVZ3R2R4H5R7NNQH6AWTNQCUC4CX7JB7COM3UEISQC PSCJ35HUHJR5UWKGG4SSHCLOQASWBQME2DWDSP44IWBKVTDVZPMQC NWTYP4ESMNLG5LLBRZ2ZOBPD2HFERAAAXPISJVARYUGUUV7EKKUAC 5CJGRKA4OVUMK2DHI24HRY5AYRG2MZNGGFHUQ25ABDTOWH4JO7VAC PQH4TSG45VGDCET56PCO5UQCRMACEJBETTE4FJA7IOPQGGVIOOEAC * <2022-05-04 Wed> WorkoutRings :- warmup :RTO: 5-15-17-8skin the cat (avec descente lente pour abdo)L-sit x3negative muscle-up x3- muscle-up : 3x1 - 1- extension 22s- compression 9spas plus à cause de la fatigue
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*** Patient 4- family : Algerian and French, 3 (2 ?) healthy siblings- born 38 weeks, weight -2.5 SD, length -1 SD, OFC- neonatal : Suckling difficulties, generalized hypotonia- motor + speech delay- No seizure- at age 4, weigh -2SD, height -1SD, OFC -3SD- no dysmorphic features.- axial hypotonia, pyramidal syndrome in the lower limbs, mild peripheral hypertonia and bilateral nystagmus.- Biological workup normal- Ophthalmologic , hearing , EEG, cardiac normal,- MRI : dentate nucleus hyperT2, + abnormal morphology
- delay- no seizures but not all reported case have them- male are too young for movement disorder onset or regression
- phenotype- milder phenotype in female (family 1)- all patients have neurodevelopmental delay- no typical MRI iron deposit : too early ?- no seizures but not all reported case have them- no movement disorder : male are too young- neurologic symptoms in one patient, correspond to a subset of the phenotype (hypotonia)- 2 very close missense variant, with different symptoms- C-terminal section ??
** Download all paper#+begin_src shpip install metapub#+end_src#+begin_src python :results outputfrom metapub import PubMedFetcherfrom metapub import FindItwith open("papers_pmid.txt") as f:with open("papers_doi.txt", "w") as fo:for pmid in [l.rstrip() for l in f.readlines()]:article = PubMedFetcher().article_by_pmid(pmid)if article.doi is not None:fo.write(article.doi + "\n")#+end_src#+RESULTS: